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1. Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study

Author: Jean-Yves Hogrel, Myriam Ly-Le Moal, A. Daron, Teresa Gidaro, Timothy Seabrook, Laurent Servais, Carole Vuillerot, Vincent Laugel, Emmanuel Fournier, Pierre G. Carlier, Ulrike Schara, Yann Péréon, Nicole Hellbach, Andreea Mihaela Seferian, Claude Cances, Ksenija Gorni, M. Annoussamy, Linda Lowes, C. Lilien, Ricardo Hermosilla, Christian Czech, Liesbeth De Waele, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), SYSNAV, Centre Hospitalier Universitaire de Liège (CHU-Liège), Centre de reference des maladies neuromusculaires Nantes-Angers, CHU d'Angers et Nantes, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University Hospitals Leuven [Leuven], KU Leuven Campus Kulak Kortrijk [Belgium], CIC Strasbourg (Centre d’Investigation Clinique Plurithématique (CIC - P) ), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Nouvel Hôpital Civil de Strasbourg-Hôpital de Hautepierre [Strasbourg], University of Duisburg-Essen, University of Oxford, Nationwide Children's Hospital, Hoffman-La Roche Ltd, Translational Medicine, Neuroscience, Institut ROCHE [Boulogne-Billancourt], Roche S.A.S, Roche Innovation Center [Basel, Switzerland], Pfizer, Gestionnaire, Hal Sorbonne Université, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), CHU Toulouse [Toulouse], Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA)-Hôpital de Hautepierre [Strasbourg]-Nouvel Hôpital Civil de Strasbourg, University of Oxford [Oxford], and Universität Duisburg-Essen = University of Duisburg-Essen [Essen]
Subjects: 0301 basic medicine, Vital capacity, Time Factors, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Medizin, MESH: Respiratory Function Tests, NASAL INSPIRATORY PRESSURE, Severity of Illness Index, Pulmonary function testing, MESH: Magnetic Resonance Imaging, Disability Evaluation, 0302 clinical medicine, MESH: Muscular Atrophy, Spinal, MESH: Child, Longitudinal Studies, MESH: Nerve Tissue Proteins, Child, MESH: Longitudinal Studies, Research Articles, VALUES, General Neuroscience, MESH: Muscle Strength, MESH: Disability Evaluation, RNA-Binding Proteins, SMA, Magnetic Resonance Imaging, MESH: Motor Activity, Respiratory Function Tests, medicine.anatomical_structure, MESH: Young Adult, Child, Preschool, Anesthesia, Disease Progression, Upper limb, MESH: Disease Progression, Erratum, Life Sciences & Biomedicine, RC321-571, Research Article, Adult, Adolescent, Clinical Neurology, Neurosciences. Biological psychiatry. Neuropsychiatry, Nerve Tissue Proteins, Motor Activity, Muscular Atrophy, Spinal, Upper Extremity, Young Adult, 03 medical and health sciences, FEV1/FVC ratio, Statistical significance, MESH: Severity of Illness Index, medicine, Humans, Muscle Strength, RC346-429, MESH: Adolescent, Science & Technology, MESH: Humans, business.industry, MESH: Time Factors, MESH: Child, Preschool, Neurosciences, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Survival of motor neuron, MESH: Adult, Spinal muscular atrophy, MESH: Upper Extremity, medicine.disease, 030104 developmental biology, MESH: RNA-Binding Proteins, Neurology. Diseases of the nervous system, Neurology (clinical), Neurosciences & Neurology, business, 030217 neurology & neurosurgery
Abstract: OBJECTIVE: To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as endpoints in clinical trials. METHODS: Patients with Type 2 and 3 SMA (N = 81) with varied functional abilities (sitters, nonsitters, nonambulant, and ambulant) who were not receiving disease-modifying treatment were assessed over 24 months: motor function (Motor Function Measure [MFM]), upper limb strength (MyoGrip, MyoPinch), upper limb activity (ActiMyo® ), quantitative magnetic resonance imaging (fat fraction [FFT2 ] mapping and contractile cross-sectional area [C-CSA]), pulmonary function (forced vital capacity [FVC], peak cough flow, maximum expiratory pressure, maximum inspiratory pressure, and sniff nasal inspiratory pressure), and survival of motor neuron (SMN) protein levels. RESULTS: MFM32 scores declined significantly over 24 months, but not 12 months. Changes in upper limb activity could be detected over 6 months and continued to decrease significantly over 12 months, but not 24 months. Upper limb strength decreased significantly over 12 and 24 months. FVC declined significantly over 12 months, but not 24 months. FFT2 increased over 12 and 24 months, although not with statistical significance. A significant increase in C-CSA was observed at 12 but not 24 months. Blood SMN protein levels were stable over 12 and 24 months. INTERPRETATION: These data demonstrate that the MFM32, MyoGrip, MyoPinch, and ActiMyo® enable the detection of a significant decline in patients with Type 2 and 3 SMA over 12 or 24 months. ispartof: ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY vol:8 issue:2 pages:359-373 ispartof: location:United States status: published
Published: 2020
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2. Relationship between markers of disease activity and progression in skeletal muscle of GNE myopathy patients using quantitative nuclear magnetic resonance imaging and 31P nuclear magnetic resonance spectroscopy

Author: Pierre G. Carlier, Benjamin Marty, Laurent Servais, Harmen Reyngoudt, Julien Le Louër, Ericky C. A. Araujo, Teresa Gidaro, P. Baudin, Anthony Behin, and Jean-Marc Boisserie
Subjects: Surrogate endpoint, business.industry, Disease progression, Skeletal muscle, GNE MYOPATHY, Nuclear magnetic resonance spectroscopy, 030218 nuclear medicine & medical imaging, Disease activity, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Nuclear magnetic resonance, Forearm, medicine, Radiology, Nuclear Medicine and imaging, business, Hamstring
Abstract: Background Quantitative nuclear magnetic resonance imaging (NMRI) is an objective and precise outcome measure for evaluating disease progression in neuromuscular disorders. We aimed to investigate predictive 'disease activity' NMR indices, including water T2 and 31P NMR spectroscopy (NMRS), and its relation to NMR markers of 'disease progression', such as the changes in fat fraction (ΔFat%) and contractile cross-sectional area (ΔcCSA), in GNE myopathy (GNEM) patients. Methods NMR was performed on a 3T clinical scanner, at baseline and at a 1-year interval, in 10 GNEM patients and 29 age-matched controls. Dixon-based fat-water imaging and water T2 mapping were acquired in legs and thighs, and in the dominant forearm. 31P NMRS was performed at the level of quadriceps and hamstring. Water T2 and 31P NMRS indices were determined for all muscle groups and visits. Correlations were performed with 'disease progression' indices ΔFat%, ΔcCSA and the muscle fat transformation rate (Rmuscle_transf). Results In quadriceps, known to be relatively preserved in GNEM, water T2 at baseline was significantly higher compared to controls, and correlated strongly with the one-year evolution of Fat% and cCSA and Rmuscle_transf. Various 31P NMRS indices showed significant differences in quadriceps and hamstring compared to controls and correlations existed between these indices and ΔFat%, ΔcCSA and Rmuscle_transf. Conclusions This study demonstrates that disease activity indices such as water T2 and 31P NMRS may predict disease progression in skeletal muscles of GNEM patients, and suggests that these measures may be considered to be valuable surrogate endpoints in the assessment of GNEM disease progression.
Published: 2020
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3. Home-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy

Author: Erwan Gasnier, David Vissiere, Laurent Servais, Tahseen Mozaffar, Gennyne Walker, Kathryn R. Wagner, John Vissing, Teresa Gidaro, M. Annoussamy, Sanjay S. Shukla, Stanley Iyadurai, and Shahram Attarian
Subjects: musculoskeletal diseases, medicine.medical_specialty, Physiology, STRIDE, Walking, Cellular and Molecular Neuroscience, Physical medicine and rehabilitation, Physiology (medical), medicine, Facioscapulohumeral muscular dystrophy, Humans, Gait, business.industry, Stride length, medicine.disease, Home based, Muscular Dystrophy, Facioscapulohumeral, Clinical trial, Muscular Dystrophies, Limb-Girdle, Gait analysis, Neurology (clinical), business, Gait Analysis, human activities, Limb-girdle muscular dystrophy
Abstract: INTRODUCTION/AIMS Limb girdle muscular dystrophy type 2B (LGMDR2) and facioscapulohumeral muscular dystrophy (FSHD) are genetic muscular dystrophies with an increasing number of potential therapeutic approaches. The aim of this study is to report the data of exploratory digital outcomes extracted from wearable magneto-inertial sensors used in a non-controlled environment for ambulant patients with FSHD and LGMDR2 in a short-term, multicenter clinical study. METHODS Digital outcomes (stride length, stride speed, and walk parameters in a non-controlled environment) were used as exploratory outcomes in the open-label study ATYR1940-C-004 in ambulant patients during the 3 mo of ATYR1940 treatment and 1 mo of follow-up. Activity and gait variables were calculated from the data recorded in 30-day sub-periods using the sensors. For each sub-period, activity and gait parameters were compared between FSHD and LGMDR2 patients. Change from baseline over the 4-mo study period was assessed. RESULTS Ten patients (5 FSHD, 5 LGMDR2) were ambulant and compliant for analysis. Gait parameters, but not activity variables, were significantly lower in LGMDR2 compared to FSHD patients at baseline. Longitudinal analyses showed a slight but significant decrease in stride speed at month 4 for all subjects. Activity variables such as total number of strides per day were highly variable from month to month in individual patients, and no visit effects were found for this variable. DISCUSSION The present study suggests that home-recorded stride speed constitutes a precise and sensitive outcome in ambulant patients with FSHD and LGMDR2.
Published: 2021

4. ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

Author: Teresa Gidaro, Julien Durigneux, Emma Pierce-Hoffman, Fabio Catervi, Johann Böhm, Alan H. Beggs, Adnan Yuksel, Montse Olivé, Casie A. Genetti, Raul Juntas-Morales, Isabelle Duband-Goulet, Nicolas Deconinck, Norma B. Romero, Eva Cabet, Rocío-Nur Villar-Quiles, Asuman Koparir, Ana Ferreiro, Jocelyn Laporte, Xavière Lornage, Mireille Cossée, John Rendu, Sandra Coppens, Lara Servais, Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Biruni University, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA, Partenaires INRAE, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des Maladies Neuromusculaires AOC, Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital and Harvard Medical School, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), and Mühendislik ve Doğa Bilimleri Fakültesi
Subjects: Male, TRANSCRIPTION COACTIVATOR, 0301 basic medicine, Pathology, animal diseases, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle Proteins, medicine.disease_cause, SIGNAL COINTEGRATOR 1, 0302 clinical medicine, Fibroblasts -- physiology, Amyotrophic lateral sclerosis, Child, Cells, Cultured, Mutation, ABNORMALITIES, Cell Cycle -- physiology, Cell Cycle, PROLIFERATION, hemic and immune systems, Sciences bio-médicales et agricoles, Middle Aged, MUSCLE, Pedigree, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Transcription Factors -- genetics, medicine.symptom, tissues, D3, G1 phase, Adult, endocrine system, medicine.medical_specialty, Amino Acid Transport System y+, DISORDERS, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Article, 03 medical and health sciences, Muscular Diseases, Neurologie, medicine, Humans, Amino Acid Transport System y+ -- metabolism -- physiology, Muscle, Skeletal, Cell Cycle Protein, Myopathy, business.industry, Infant, Spinal muscular atrophy, Fibroblasts, medicine.disease, GENE, Congenital myopathy, eye diseases, MUSCULAR-DYSTROPHY, ADIPOGENESIS, 030104 developmental biology, Muscular Diseases -- genetics -- physiopathology, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors
Abstract: Objective: Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations. Methods: Clinical, molecular, histological, and magnetic resonance imaging studies were made in 5 families with 7 novel TRIP4 mutations. Fluorescence activated cell sorting and Western blot were performed in patient-derived fibroblasts and muscles and in Trip4 knocked-down C2C12 cells. Results: All mutations caused ASC-1 protein depletion. The clinical phenotype was purely myopathic, ranging from lethal neonatal to mild ambulatory adult patients. It included early onset axial and proximal weakness, scoliosis, rigid spine, dysmorphic facies, cutaneous involvement, respiratory failure, and in the older cases, dilated cardiomyopathy. Muscle biopsies showed multiminicores, nemaline rods, cytoplasmic bodies, caps, central nuclei, rimmed fibers, and/or mild endomysial fibrosis. ASC-1 depletion in C2C12 and in patient-derived fibroblasts and muscles caused accelerated proliferation, altered expression of cell cycle proteins, and/or shortening of the G0/G1 cell cycle phase leading to cell size reduction. Interpretation: Our results expand the phenotypical and molecular spectrum of TRIP4-associated disease to include mild adult forms with or without cardiomyopathy, associate ASC-1 depletion with isolated primary muscle involvement, and establish TRIP4 as a causative gene for several congenital muscle diseases, including nemaline, core, centronuclear, and cytoplasmic-body myopathies. They also identify ASC-1 as a novel cell cycle regulator with a key role in cell proliferation, and underline transcriptional coregulation defects as a novel pathophysiological mechanism. ANN NEUROL 2020;87:217–232., SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2019
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5. Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

Author: Harmen Reyngoudt, Anthony Behin, Ericky C. A. Araujo, Benjamin Marty, Ferial Toumi, M. Annoussamy, Jean-Yves Hogrel, Melanie Villeret, Laurent Servais, Teresa Gidaro, P. Baudin, Julien Le Louër, and Pierre G. Carlier
Subjects: Adult, Male, medicine.medical_specialty, Neurology, Thigh, 03 medical and health sciences, 0302 clinical medicine, Nuclear magnetic resonance, Forearm, medicine, Humans, 030212 general & internal medicine, Muscle, Skeletal, Neuroradiology, Subclinical infection, Surrogate endpoint, business.industry, Skeletal muscle, Middle Aged, Magnetic Resonance Imaging, Distal Myopathies, medicine.anatomical_structure, Disease Progression, Upper limb, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: BACKGROUND AND OBJECTIVE: To identify the most responsive and sensitive clinical outcome measures in GNE myopathy. METHODS: ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Strength and functional tests included Myogrip, Myopinch, MoviPlate and Brooke assessments for upper limb and the 6-min walk distance for lower limb. qNMRI was performed for determining the degree of fatty infiltration and trophicity in leg, thigh, forearm and hand skeletal muscles. Ten GNE myopathy patients were included. Three patients were non-ambulant. Age and gender-matched healthy subjects were used as controls. RESULTS: Fatty infiltration and contractile cross-sectional area changed inversely and significantly in lower distal limbs and in proximal lower and distal upper limbs over 1 year. qNMRI indices and functional assessment results were strongly correlated. CONCLUSIONS: Even in a limited number of patients, qNMRI could detect a significant change over a 1-year period in GNE myopathy, which suggests that qNMRI could constitute a surrogate endpoint in this slowly progressive disease. Quantitative NMRI outcome measures can monitor intramuscular fat accumulation with high responsiveness. Longer follow-up should improve our understanding of GNE myopathy evolution and also lead to the identification of non-invasive outcome measures with the highest discriminant power for upcoming clinical trials.
Published: 2019
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6. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Author: Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, Joseph J, Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Nicolas, Deconinck, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina, Martina, Galiot, Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Stefania Bianchi Marzoli, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini, Francesca, Abbati, Federica, Fassini, Michaela, Foa, Amalia, Lopopolo, Elisa, Minuti, Mercuri, Eugenio Maria, Pane, Marika, Concetta, Palermo, Pera, Maria Carmela, Amorelli, Giulia Maria, Costanza, Barresi, Gugliemo, D'Amico, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Yasuhiro, Takeshima, Fumi, Gomi, Naoki, Kimura, Takanobu, Morimatsu, Mana, Okamoto, Toru, Furukawa, Mateusz, Koberda, Natalia, Kubiak, Urszula, Stodolska-Koberda, Agnieszka, Waśkowska, Jagoda, Kolendo, Agnieszka, Sobierajska-Rek, Svetlana, Artemyeva, Evgenia, Melnik, Natalya, Leppenen, Nataliya, Yupatova, Elena, Litvinova, Anastasya, Monakhova, Yulia, Papina, Olga, Shidlovsckaia, Andrea, Klein, Cornelia, Enzmann, Elea, Galiart, Konstantin, Gugleta, Patricia, Siems, Verena, Kreiliger, Christine Wondrusch Haschke, Haluk, Topaloglu, Ibrahim, Oncel, Didem, Ardicli, Nesibe Eroglu Ertugrul, Hizal, Gharibzadeh, Ceren, Gunbey, Bahadir, Konuskan, Selen Serel Arslan, Elams Ebru Yalcin, Fatma Gokcem Yildiz Sarikaya, Bora, Eldem, Sibel, Kadayıfçılar, Ipek, Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Robert, J Graham, Partha, Ghosh, David, Casavant, Brian, Snyder, Alexis, Levine, Rachael, Titus, Amanda, Engelbrekt, Lucia, Ambrosio, Anne, Fulton, Anna Maria Baglieri, Courtney, Dias, Elizabeth, Maczek, Elizabeth, Mirek, Amy, Pasternak, John, W Day, Shannon, Beres, Tina, Duong, Richard, Gee, Sally, Young, Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent, and Ambrosio, Lucia
Subjects: Male, medicine.medical_specialty, Neuromuscular disease, Risdiplam, Type 1 Spinal Muscular Atrophy, treated infants, historical controls, MEDLINE, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Severity of illness, medicine, Humans, Progression-free survival, 610 Medicine & health, business.industry, Historically Controlled Study, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Progression-Free Survival, Settore MED/26 - NEUROLOGIA, Pyrimidines, Neuromuscular Agents, Motor Skills, Female, business, Azo Compounds
Abstract: BACKGROUND Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein. Risdiplam is an orally administered small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein in blood. METHODS We conducted an open-label study of risdiplam in infants with type 1 SMA who were 1 to 7 months of age at enrollment. Part 1 of the study (published previously) determined the dose to be used in part 2 (reported here), which assessed the efficacy and safety of daily risdiplam as compared with no treatment in historical controls. The primary end point was the ability to sit without support for at least 5 seconds after 12 months of treatment. Key secondary end points were a score of 40 or higher on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND; range, 0 to 64, with higher scores indicating better motor function), an increase of at least 4 points from baseline in the CHOP-INTEND score, a motor-milestone response as measured by Section 2 of the Hammersmith Infant Neurological Examination (HINE-2), and survival without permanent ventilation. For the secondary end points, comparisons were made with the upper boundary of 90% confidence intervals for natural-history data from 40 infants with type 1 SMA. RESULTS A total of 41 infants were enrolled. After 12 months of treatment, 12 infants (29%) were able to sit without support for at least 5 seconds, a milestone not attained in this disorder. The percentages of infants in whom the key secondary end points were met as compared with the upper boundary of confidence intervals from historical controls were 56% as compared with 17% for a CHOP-INTEND score of 40 or higher, 90% as compared with 17% for an increase of at least 4 points from baseline in the CHOP-INTEND score, 78% as compared with 12% for a HINE-2 motor-milestone response, and 85% as compared with 42% for survival without permanent ventilation (P
Published: 2021

7. Risdiplam in Type 1 Spinal Muscular Atrophy

Author: Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicolas, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio Maria, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent, FIREFISH Working Group: Joseph, J Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Edmar, Zanoteli, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Wang, Yi, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Hui, Xiong, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina Galiot Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Bianchi Marzoli, Stefania, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Bissoli, Claudio Bruno, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini, Francesca, Abbati, Federica, Fassini, Michaela, Foa, Amalia, Lopopolo, Elisa, Minuti, Pane, Marika, Concetta, Palermo, Pera, Maria Carmela, Amorelli, Giulia Maria, Costanza, Barresi, Gugliemo, D'Amico, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Yasuhiro, Takeshima, Fumi, Gomi, Naoki, Kimura, Takanobu, Morimatsu, Mana, Okamoto, Toru, Furukawa, Maria, Mazurkiewicz-Bełdzińska, Mateusz, Koberda, Natalia, Kubiak, Urszula, Stodolska-Koberda, Agnieszka, Waśkowska, Jagoda, Kolendo, Agnieszka, Sobierajska-Rek, Dmitry, Vlodavets, Svetlana, Artemyeva, Evgenia, Melnik, Natalya, Leppenen, Nataliya, Yupatova, Elena, Litvinova, Anastasya, Monakhova, Yulia, Papina, Olga, Shidlovsckaia, Cornelia, Enzmann, Elea, Galiart, Konstantin, Gugleta, Patricia, Siems, Verena, Kreiliger, Christine Wondrusch Haschke, Haluk, Topaloglu, Ibrahim, Oncel, Didem, Ardicli, Nesibe Eroglu Ertugrul, Hizal, Gharibzadeh, Ceren, Gunbey, Bahadir, Konuskan, Selen Serel Arslan, Elams Ebru Yalcin, Fatma Gokcem Yildiz Sarikaya, Bora, Eldem, Sibel, Kadayıfçılar, Ipek, Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Lucia, Ambrosio, Anne, Fulton, Anna Maria Baglieri, Courtney, Dias, Elizabeth, Maczek, Elizabeth, Mirek, Amy, Pasternak, Shannon, Beres, Tina, Duong, Richard, Gee, Sally, Young, Giovanni, Baranello, Basil T, Darra, John W, Day, Nicolas, Deconinck, Andrea, Klein, Riccardo, Masson, Eugenio, Mercuri, Kristy, Rose, Muna, El-Khairi, Marianne, Gerber, Ksenija, Gorni, Omar, Khwaja, Heidemarie, Kletzl, Renata S, Scalco, Timothy, Seabrook, Paulo, Fontoura, Laurent, Servai, and Ambrosio, Lucia
Subjects: Male, Oral, Neuromuscular disease, RNA Splicing, Administration, Oral, 030204 cardiovascular system & hematology, Spinal Muscular Atrophies of Childhood, Bioinformatics, Dose-Response Relationship, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Risdiplam, Type 1 Spinal Muscular Atrophy, 030212 general & internal medicine, Progression-free survival, 610 Medicine & health, Respiratory Tract Infections, Dose-Response Relationship, Drug, business.industry, Infant, Survival of motor neuron, General Medicine, Spinal muscular atrophy, medicine.disease, Survival of Motor Neuron 1 Protein, Progression-Free Survival, Clinical trial, Dose–response relationship, Settore MED/26 - NEUROLOGIA, Pyrimidines, nervous system, Neuromuscular Agents, RNA splicing, Administration, Female, Drug, business, Respiratory Insufficiency, Azo Compounds
Abstract: Background: Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein. Methods: We report the results of part 1 of a two-part, phase 2-3, open-label study of risdiplam in infants 1 to 7 months of age who had type 1 spinal muscular atrophy, which is characterized by the infant not attaining the ability to sit without support. Primary outcomes were safety, pharmacokinetics, pharmacodynamics (including the blood SMN protein concentration), and the selection of the risdiplam dose for part 2 of the study. Exploratory outcomes included the ability to sit without support for at least 5 seconds. Results: A total of 21 infants were enrolled. Four infants were in a low-dose cohort and were treated with a final dose at month 12 of 0.08 mg of risdiplam per kilogram of body weight per day, and 17 were in a high-dose cohort and were treated with a final dose at month 12 of 0.2 mg per kilogram per day. The baseline median SMN protein concentrations in blood were 1.31 ng per milliliter in the low-dose cohort and 2.54 ng per milliliter in the high-dose cohort; at 12 months, the median values increased to 3.05 ng per milliliter and 5.66 ng per milliliter, respectively, which represented a median of 3.0 times and 1.9 times the baseline values in the low-dose and high-dose cohorts, respectively. Serious adverse events included pneumonia, respiratory tract infection, and acute respiratory failure. At the time of this publication, 4 infants had died of respiratory complications. Seven infants in the high-dose cohort and no infants in the low-dose cohort were able to sit without support for at least 5 seconds. The higher dose of risdiplam (0.2 mg per kilogram per day) was selected for part 2 of the study. Conclusions: In infants with type 1 spinal muscular atrophy, treatment with oral risdiplam led to an increased expression of functional SMN protein in the blood. (Funded by F. Hoffmann-La Roche; ClinicalTrials.gov number, NCT02913482.).
Published: 2021

8. Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases

Author: Olivier Benveniste, Benjamin Marty, Julien Le Louër, Brenda L. Wong, Yves Allenbach, Teresa Gidaro, P. Baudin, Jean-Marc Boisserie, Harmen Reyngoudt, Pierre G. Carlier, Cedi Koumako, Anthony Behin, Laurent Servais, Tanya Stojkovic, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire RMN AIM-CEA, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Division of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, CHU Pitié-Salpêtrière [AP-HP], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and University of Oxford
Subjects: medicine.medical_specialty, Dysferlinopathy, Neuromuscular disease, [SDV]Life Sciences [q-bio], Duchenne muscular dystrophy, Thigh, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Muscular dystrophy, Muscle, Skeletal, business.industry, Muscles, Skeletal muscle, General Medicine, Spinal muscular atrophy, Neuromuscular Diseases, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Adipose Tissue, Muscular Dystrophies, Limb-Girdle, 030220 oncology & carcinogenesis, Cardiology, Radiology, Inclusion body myositis, business
Abstract: Magnetic resonance imaging (MRI) constitutes a powerful outcome measure in neuromuscular disorders, yet there is a broad diversity of approaches in data acquisition and analysis. Since each neuromuscular disease presents a specific pattern of muscle involvement, the recommended analysis is assumed to be the muscle-by-muscle approach. We, therefore, performed a comparative analysis of different segmentation approaches, including global muscle segmentation, to determine the best strategy for evaluating disease progression. In 102 patients (21 immune-mediated necrotizing myopathy/IMNM, 21 inclusion body myositis/IBM, 10 GNE myopathy/GNEM, 19 Duchenne muscular dystrophy/DMD, 12 dysferlinopathy/DYSF, 7 limb-girdle muscular dystrophy/LGMD2I, 7 Pompe disease, 5 spinal muscular atrophy/SMA), two MRI scans were obtained at a 1-year interval in thighs and lower legs. Regions of interest (ROIs) were drawn in individual muscles, muscle groups, and the global muscle segment. Standardized response means (SRMs) were determined to assess sensitivity to change in fat fraction (ΔFat%) in individual muscles, muscle groups, weighted combinations of muscles and muscle groups, and in the global muscle segment. Global muscle segmentation gave high SRMs for ΔFat% in thigh and lower leg for IMNM, DYSF, LGMD2I, DMD, SMA, and Pompe disease, and only in lower leg for GNEM and thigh for IBM. Global muscle segment Fat% showed to be sensitive to change in most investigated neuromuscular disorders. As compared to individual muscle drawing, it is a faster and an easier approach to assess disease progression. The use of individual muscle ROIs, however, is still of interest for exploring selective muscle involvement. • MRI-based evaluation of fatty replacement in muscles is used as an outcome measure in the assessment of 1-year disease progression in 8 different neuromuscular diseases. • Different segmentation approaches, including global muscle segmentation, were evaluated for determining 1-year fat fraction changes in lower limb skeletal muscles. • Global muscle segment fat fraction has shown to be sensitive to change in lower leg and thigh in most of the investigated neuromuscular diseases.
Published: 2020
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9. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps

Author: Teresa Gidaro and Laurent Servais
Subjects: 030506 rehabilitation, Pediatrics, medicine.medical_specialty, Oligonucleotides, MEDLINE, SMN1, Approved drug, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, medicine, Milestone (project management), Animals, Humans, Drug Approval, business.industry, Spinal muscular atrophy, medicine.disease, SMA, Expanded access, Pediatrics, Perinatology and Child Health, Nusinersen, Neurology (clinical), 0305 other medical science, business, 030217 neurology & neurosurgery, Central Nervous System Agents
Abstract: Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (SMN1); it affects 1 in 11 000 newborn infants. The most severe and most common form, type 1 SMA, is associated with early mortality in most cases and severe disability in survivors. Nusinersen, an antisense oligonucleotide, promotes production of full-length protein from the pseudogene SMN2. Nusinersen treatment prolongs survival of patients with type 1 SMA and allows motor milestone acquisition. Patients with type 2 SMA also show progress on different motor scales after nusinersen treatment. Nusinersen was recently approved by the European Medicines Agency and the US Food and Drug Administration; it is now reimbursed in several European countries and in the USA. In Australia, the transition from expanded access programme to commercial availability is coming soon. In New Zealand, an expanded access programme is opened, and in Canada price negotiation for the treatment is in progress. In this review we exemplify the clinical benefit of nusinersen in subgroups of patients with SMA. Nusinersen represents the first efficacious marked approved drug in type 1 and type 2 SMA. Different knowledge gaps, such as results in older patients, in patients with permanent ventilation, in patients with neonatal forms, or in patients after spinal fusion, still need to be addressed. WHAT THIS PAPER ADDS: Identifies gaps in knowledge about the efficacy of nusinersen in broader populations of patients with spinal muscular atrophy. Identifies open questions in populations of patients where proof of efficacy is available.
Published: 2018
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10. Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot‐Marie‐Tooth disease type 2 phenotype

Author: Ruxandra Cardas, Teresa Gidaro, A. Guiochon-Mantel, C. Anghelescu, Laurent Servais, P. Aubourg, and Bruno Francou
Subjects: 0301 basic medicine, 030102 biochemistry & molecular biology, business.industry, MFN2, Bioinformatics, Phenotype, 03 medical and health sciences, Tooth disease, 0302 clinical medicine, Neurology, Medicine, Neurology (clinical), business, Exome, 030217 neurology & neurosurgery, Exome sequencing
Published: 2020
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11. DMD and West syndrome

Author: N. Butoianu, Teresa Gidaro, E. Gargaun, Svetlana Gataullina, Ruxandra Cardas, Laurent Servais, Thierry Bienvenu, Dana Craiu, Juliette Nectoux, Catrinel Iliescu, and Andreea Mihaela Seferian
Subjects: musculoskeletal diseases, Central Nervous System, Male, Pediatrics, medicine.medical_specialty, Duchenne muscular dystrophy, Dystrophin, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, 030225 pediatrics, medicine, Humans, Protein Isoforms, Muscular dystrophy, Genetics (clinical), biology, Seizure types, business.industry, Infant, West Syndrome, medicine.disease, Hypsarrhythmia, Muscular Dystrophy, Duchenne, Epileptic spasms, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery
Abstract: Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6.3% and 12.3%) than in the general pediatric population (0.5–1%). Duchenne Muscular Dystrophy patients may present with focal seizures, generalized tonic-clonic seizures or absences. We report on two boys in whom Duchenne Muscular Dystrophy is associated with epileptic spasms and hypsarrhythmia that fulfil the criteria for West syndrome, thus extending the spectrum of seizure types described in Duchenne Muscular Dystrophy patients.
Published: 2020

12. Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

Author: Volker Straub, Valeria Ricotti, Jean-Yves Hogrel, Laurent Servais, Thomas Voit, Andreea Mihaela Seferian, Imelda J. M. de Groot, Marie De Antonio, Teresa Gidaro, Valérie Decostre, Erik H. Niks, Francesco Muntoni, Isabelle Ledoux, Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Leiden University Medical Center (LUMC), Radboud University Medical Center [Nijmegen], University College of London [London] (UCL), Centre Hospitalier Universitaire de Liège (CHU-Liège), University of Oxford [Oxford], Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Universiteit Leiden, University of Oxford, and Gestionnaire, Hal Sorbonne Université
Subjects: Duchenne muscular dystrophy, Adult, Male, medicine.medical_specialty, Adolescent, Normal values, Muscle Strength Dynamometer, Outcome measures, 03 medical and health sciences, Grip strength, Young Adult, 0302 clinical medicine, Physical medicine and rehabilitation, [SPI.MECA.BIOM] Engineering Sciences [physics]/Mechanics [physics.med-ph]/Biomechanics [physics.med-ph], Outcome Assessment, Health Care, medicine, Humans, In patient, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030212 general & internal medicine, Child, Glucocorticoids, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Hand Strength, business.industry, [SPI.MECA.BIOM]Engineering Sciences [physics]/Mechanics [physics.med-ph]/Biomechanics [physics.med-ph], Reproducibility of Results, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Duchenne, Neurology, Child, Preschool, Cohort, Ambulatory, Disease Progression, Ceiling effect, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Follow-Up Studies
Abstract: Contains fulltext : 220816.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The main aim was to explore the changes in hand-grip strength in patients with Duchenne muscular dystrophy (DMD) aged 5-29 years. Secondary aims were to test the effect of mutation, ambulatory status and glucocorticoid use on grip strength and its changes over time and to compute the number of subjects needed for a clinical trial to stabilize grip strength. METHODS: The analysis was performed on data collected during five international natural history studies on a cohort of DMD patients. Two hundred and two patients with genetically proven DMD were pooled from five different natural history studies. Excepting 13 patients with only one visit, the mean duration of follow-up was 2.2 +/- 1.6 years. A total of 977 measurement points were collected. Grip strength was measured on the dominant side with a high precision dynamometer. The analysis was performed using absolute values and normalized values expressed in percentage of predicted values for age. RESULTS: For absolute values, grip strength typically increased in ambulatory boys and decreased in non-ambulatory patients. However, when normalized, grip strength was already reduced at age 5 years and thereafter continued to fall away from normal values. The weaker the patients, the less strength they are prone to lose over again. INTERPRETATION: Grip strength constitutes a sensitive and continuous outcome measure that can be used across all stages of DMD. Its measurement is easy to standardized, can be used in ambulatory and non-ambulatory patients and does not present any floor or ceiling effect. It is thus attractive as an outcome measure in therapeutic trials.
Published: 2020
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13. Rimeporide as a ﬁrst- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy

Author: Joana Domingos, Delphine Labolle, Teresa Gidaro, Francesco Muntoni, Florence Porte Thomé, Camilla Johansson, Stefano C. Previtali, Jordi Díaz-Manera, Pietro Spitali, Julian Gray, Mirko Signorelli, Stephanie Carnesecchi, Jacqueline Pitchforth, Alberto Zambon, Cristina Al-Khalili Szigyarto, Pascale Roux-Lombard, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospital de la Santa Creu i Sant Pau, CIBER de Enfermedades Raras (CIBERER), Université de Genève (UNIGE), Geneva University Hospital (HUG), Leiden University Medical Center (LUMC), Royal Institute of Technology [Stockholm] (KTH ), Science for Life Laboratory [Solna], University College of London [London] (UCL), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université de Genève = University of Geneva (UNIGE), and Universiteit Leiden
Subjects: Male, 0301 basic medicine, musculoskeletal diseases, Cardiomyopathy, Duchenne muscular dystrophy, Administration, Oral, Pharmacokinetic, Duchenne Muscular Dystrophy, Pharmacology, ddc:616.07, Models, Biological, Drug Administration Schedule, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pharmacokinetics, Rimeporide, medicine, Humans, In patient, Child, Muscle, Skeletal, NHE-1, ComputingMethodologies_COMPUTERGRAPHICS, ddc:616, Sodium-Hydrogen Exchanger 1, business.industry, medicine.disease, Pathophysiology, 3. Good health, Europe, Muscular Dystrophy, Duchenne, Treatment Outcome, 030104 developmental biology, Neuromuscular Agents, chemistry, 030220 oncology & carcinogenesis, Pharmacodynamics, Heart failure, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, Safety, business
Abstract: Graphical abstract, Rimeporide, a ﬁrst-in-class sodium/proton exchanger Type 1 inhibitor (NHE-1 inhibitor) is repositioned by EspeRare for patients with Duchenne Muscular Dystrophy (DMD). Historically, NHE-1 inhibitors were developed for cardiac therapeutic interventions. There is considerable overlap in the pathophysiological mechanisms in Congestive Heart Failure (CHF) and in cardiomyopathy in DMD, therefore NHE-1 inhibition could be a promising pharmacological approach to the cardiac dysfunctions observed in DMD. Extensive preclinical data was collected in various animal models including dystrophin-deficient (mdx) mice to characterise Rimeporide’s anti-fibrotic and anti-inflammatory properties and there is evidence that NHE-1 inhibitors could play a significant role in modifying DMD cardiac and also skeletal pathologies, as the NHE-1 isoform is ubiquitous. We report here the first study with Rimeporide in DMD patients. This 4-week treatment, open label phase Ib, multiple oral ascending dose study, enrolled 20 ambulant boys with DMD (6–11 years), with outcomes including safety, pharmacokinetic (PK) and pharmacodynamic (PD) biomarkers. Rimeporide was safe and well-tolerated at all doses. PK evaluations showed that Rimeporide was well absorbed orally reaching pharmacological concentrations from the lowest dose, with exposure increasing linearly with dose and with no evidence of accumulation upon repeated dosing. Exploratory PD biomarkers showed positive effect upon a 4-week treatment, supporting its therapeutic potential in patients with DMD, primarily as a cardioprotective treatment, and provide rationale for further efficacy studies.
Published: 2020
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14. X-linked myotubular myopathy: A prospective international natural history study

Author: A. Hernandez, Andrea Gangfuß, V. Chê, Adele D'Amico, Rémi Bellance, Laurent Servais, Capucine de Lattre, Basil T. Darras, E. Gargaun, James J. Dowling, Teresa Gidaro, C. Lilien, Ulrike Schara, A. Daron, Ana Buj-Bello, H. Landy, Jean-Marie Cuisset, Carole Vuillerot, Jean-Yves Hogrel, S. Fontaine, Jean-Michel Arnal, Valérie Biancalana, Michèle Mayer, M. Annoussamy, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Advanced BC.org, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Neuromuscular Physiology and Evaluation Laboratory, Service of Clinical Trials and Databases, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), École Pratique des Hautes Études (EPHE), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0301 basic medicine, Adult, Male, Vital capacity, medicine.medical_specialty, Neuromuscular disease, Adolescent, [SDV]Life Sciences [q-bio], Population, Medizin, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Prospective Studies, education, Prospective cohort study, Child, education.field_of_study, business.industry, Exhalation, Infant, Middle Aged, medicine.disease, X-linked myotubular myopathy, 3. Good health, 030104 developmental biology, Phenotype, Child, Preschool, Breathing, Disease Progression, Neurology (clinical), business, 030217 neurology & neurosurgery, Natural history study, Follow-Up Studies, Myopathies, Structural, Congenital
Abstract: ObjectivesBecause X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures.MethodsWe designed an international prospective and longitudinal natural history study in patients with XLMTM and assessed muscle strength and motor and respiratory functions over the first year of follow-up. The humoral immunity against adeno-associated virus serotype 8 was also monitored.ResultsForty-five male patients aged 3.5 months to 56.8 years were enrolled between May 2014 and May 2017. Thirteen patients had a mild phenotype (no ventilation support), 7 had an intermediate phenotype (ventilation support less than 12 hours a day), and 25 had a severe phenotype (ventilation support 12 or more hours a day). Most strength and motor function assessments could be performed even in very weak patients. Motor Function Measure 32 total score, grip and pinch strengths, and forced vital capacity, forced expiratory volume in the first second of exhalation, and peak cough flow measures discriminated the 3 groups of patients. Disease history revealed motor milestone loss in several patients. Longitudinal data on 37 patients showed that the Motor Function Measure 32 total score significantly decreased by 2%. Of the 38 patients evaluated, anti–adeno-associated virus type 8 neutralizing activity was detected in 26% with 2 patients having an inhibitory titer >1:10.ConclusionsOur data confirm that XLMTM is slowly progressive for male survivors regardless of their phenotype and provide outcome validation and natural history data that can support clinical development in this population.ClinicalTrials.gov identifierNCT02057705.
Published: 2019
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15. P.200 Feasibility and baseline values of continuous movement measurement in patients with centronuclear myopathy by using ActiMyo®

Author: J.Y. Hogrel, H. Landy, Ulrike Schara, V. Chê, Teresa Gidaro, Alessandra D'Amico, Andreea Mihaela Seferian, C. Lilien, L. Servais, M. Annoussamy, Jonathan Baets, Chris Freitag, M. Grelet, Anna Buj-Bello, A. Hernandez, Dominique Duchene, C. de Lattre, Anthony Behin, A. Grangé, and E. Gasnier
Subjects: Baseline values, medicine.medical_specialty, business.industry, Movement measurement, Medizin, medicine.disease, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Cardiology, In patient, Neurology (clinical), Centronuclear myopathy, business, Genetics (clinical)
Published: 2019

16. P.107Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study

Author: C. Lilien, Nicol C. Voermans, A. Grangé, Teresa Gidaro, L. Servais, V. Chê, Andreea Mihaela Seferian, Jonathan Baets, Anthony Behin, W. De Ridder, M. Annoussamy, C. Freitag, L. Thielemans, Marc Bitoun, K. Paradis, J.Y. Hogrel, S. Van Rooijen, and D. Duchene
Subjects: medicine.medical_specialty, business.industry, medicine.disease, DNM2, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, In patient, Neurology (clinical), Centronuclear myopathy, business, Gene, Genetics (clinical), Natural history study
Published: 2019
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17. P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy

Author: L. Servais, Nicolas Deconinck, Teresa Gidaro, Montse Olivé, Johann Böhm, E. Pierce-Hoffman, A. Koparir, Ana Ferreiro, R. Juntas-Morales, Casie A. Genetti, Isabelle Duband-Goulet, L. Davignon, Alan H. Beggs, Eva Cabet, A. Yuksel, Rocío-Nur Villar-Quiles, Mireille Cossée, and Sandra Coppens
Subjects: Pathology, medicine.medical_specialty, business.industry, medicine.disease, Congenital myopathy, Phenotype, Pathophysiology, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Genetics (clinical)
Published: 2019
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18. Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy

Author: Gwenn Ollivier, Aurélie Canal, Laurent Servais, Jean-Yves Hogrel, Valérie Decostre, Noura Azzabou, Teresa Gidaro, Isabelle Ledoux, Anne Gaelle Le Moing, C. Lilien, Pierre G. Carlier, M. Annoussamy, Nacera Reguiba, Thomas Voit, Amélie Moraux, Ruxandra Cardas, Claire Wary, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and DESSAIVRE, Louise
Subjects: Male, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Adolescent, [SDV]Life Sciences [q-bio], Duchenne muscular dystrophy, Fat infiltration, Article, 030218 nuclear medicine & medical imaging, Phosphocreatine, Upper Extremity, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Muscular dystrophy, Sensitivity to change, Child, business.industry, Nuclear magnetic resonance spectroscopy, medicine.disease, [SDV] Life Sciences [q-bio], Muscular Dystrophy, Duchenne, medicine.anatomical_structure, chemistry, Ambulatory, Cardiology, Upper limb, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: International audience; Objective:To explore the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy (DMD).Methods:Twenty-five 53-skippable patients with DMD were included in this study; 15 were nonambulatory at baseline. All patients underwent clinical and functional assessments every 6 months using the Motor Function Measure (MFM), hand grip and key pinch strength, MoviPlate, and NMR spectroscopy and imaging studies.Results:Upper limb distal strength decreased in nonambulatory patients over the period of 1 year; ambulatory patients showed improvement during the same period. The same applied for several NMRS indices, such as phosphocreatine/adenosine triphosphate, which decreased in older patients but increased in younger ambulatory patients. Fat infiltration in the upper limbs increased linearly with age. Almost all NMR and functional assessment results correlated.Conclusions:Our results underscore complementarity of functional and NMR assessments in patients with DMD. Sensitivity to change of various indices may differ according to disease stage.
Published: 2016
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19. EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

Author: Cécile Masson, Isabelle Nelson, Ruxandra Cardas, Marie-Thérèse Bihoreau, Laurent Servais, Catherine Delanoe, Jean-François Deleuze, E. Gargaun, Gisèle Bonne, Anne Boland, Andreea Mihaela Seferian, Teresa Gidaro, Juliette Nectoux, Anne-Gaëlle Le Moing, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Unité de Neurophysiologie [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génomique d'Evry (IG), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Sorbonne Université (SU), and ANR-10-INBS-0009,France-Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)
Subjects: 0301 basic medicine, Genetics, education.field_of_study, Early Growth Response Protein 2, business.industry, [SDV]Life Sciences [q-bio], Phenotype, DEJERINE-SOTTAS SYNDROME, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Mutation (genetic algorithm), DNA Mutational Analysis, Medicine, Neurology (clinical), education, business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery
Abstract: International audience
Published: 2016
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20. Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study

Author: Juliette Ropars, Karolina Aragon-Gawinska, Andreea Mihaela Seferian, Jessica Taytard, Laurent Servais, Jerome Rambaud, Carole Vuillerot, Chiara Marini-Bettolo, Teresa Gidaro, Claude Cances, M. Annoussamy, Mariacristina Scoto, Mondher Chouchane, Inge Cuppen, A. Daron, E. Gargaun, Imelda Hughes, and Marjorie Illingworth
Subjects: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Movement, Oligonucleotides, Phases of clinical research, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Severity of illness, medicine, Humans, Longitudinal Studies, Stage (cooking), Child, Injections, Spinal, business.industry, Respiration, Infant, Spinal muscular atrophy, medicine.disease, Clinical trial, Survival of Motor Neuron 2 Protein, 030104 developmental biology, Treatment Outcome, Expanded access, Child, Preschool, Nusinersen, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study
Abstract: ObjectiveTo evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1).MethodsPatients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32).ResultsWe treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene.ConclusionsOur results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease.ClinicalTrials.gov identifier:NCT02865109.Classification of evidenceThis study provides Class IV evidence that for patients with SMA1 who are older than 7 months, nusinersen is beneficial.
Published: 2018

21. Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy : Baseline data NatHis-SMA study

Author: Aurélie Chabanon, Andreea Mihaela Seferian, Aurore Daron, Yann Péréon, Claude Cances, Carole Vuillerot, Liesbeth De Waele, Jean-Marie Cuisset, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Stéphanie Gilabert, Jean-Yves Hogrel, Pierre-Yves Baudin, Pierre Carlier, Emmanuel Fournier, Linda Pax Lowes, Nicole Hellbach, Timothy Seabrook, Elie Toledano, Mélanie Annoussamy, Laurent Servais, NatHis-SMA study group, and Group, NatHis-SMA Study
Subjects: 0301 basic medicine, Male, Longitudinal study, Muscle Physiology, Muscle Functions, Physiology, Medizin, HEALTHY-SUBJECTS, lcsh:Medicine, CHILDREN, Disease, Spinal Muscular Atrophies of Childhood, NASAL INSPIRATORY PRESSURE, Biochemistry, Pulmonary function testing, Diagnostic Radiology, Fats, 6-MINUTE WALK TEST, MUSCLE STRENGTH, 0302 clinical medicine, Medicine and Health Sciences, Longitudinal Studies, Child, lcsh:Science, Lung, Musculoskeletal System, Forearms, Multidisciplinary, Muscle Weakness, VALUES, Radiology and Imaging, Muscle Analysis, Wrist, SMA, Magnetic Resonance Imaging, Lipids, Multidisciplinary Sciences, Arms, Bioassays and Physiological Analysis, Child, Preschool, Science & Technology - Other Topics, Female, Anatomy, CLINICAL-TRIALS, Natural history study, Muscle Electrophysiology, Research Article, Adult, medicine.medical_specialty, Adolescent, Imaging Techniques, NEUROMUSCULAR DISEASES, MOTOR FUNCTION MEASURE, Research and Analysis Methods, 03 medical and health sciences, Young Adult, Physical medicine and rehabilitation, Diagnostic Medicine, medicine, Humans, Muscle Strength, Science & Technology, business.industry, Limbs (Anatomy), Electrophysiological Techniques, lcsh:R, Electromyoneurography, Biology and Life Sciences, OUTCOME MEASURES, Spinal muscular atrophy, medicine.disease, Clinical trial, 030104 developmental biology, lcsh:Q, business, 030217 neurology & neurosurgery, Psychomotor Performance, Biomarkers
Abstract: UNLABELLED: Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up. As an approved treatment becomes available, untreated patients will soon become rare, further intensifying the need for a rapid, prospective and longitudinal study of the natural history of SMA Type 2 and 3. Here we present the baseline assessments of 81 patients aged 2 to 30 years of which 19 are non-sitter SMA Type 2, 34 are sitter SMA Type 2, 9 non-ambulant SMA Type 3 and 19 ambulant SMA Type 3. Collecting these data at nine sites in France, Germany and Belgium established the feasibility of gathering consistent data from numerous and demanding assessments in a multicenter SMA study. Most assessments discriminated between the four groups well. This included the Motor Function Measure (MFM), pulmonary function testing, strength, electroneuromyography, muscle imaging and workspace volume. Additionally, all of the assessments showed good correlation with the MFM score. As the untreated patient population decreases, having reliable and valid multi-site data will be imperative for recruitment in clinical trials. The pending two-year study results will evaluate the sensitivity of the studied outcomes and biomarkers to disease progression. TRIAL REGISTRATION: ClinicalTrials.gov (NCT02391831). ispartof: PLOS ONE vol:13 issue:7 ispartof: location:United States status: published
Published: 2018

22. New myotubular myopathy classification

Author: L. Servais, C. deLattre, V. Chê, Jean-Marie Cuisset, J.Y. Hogrel, A. Hernandez, E. Gargaun, Teresa Gidaro, Rémi Bellance, A. Daron, C. Lilien, S. Fontaine, M. Mayer, Ulrike Schara, H. Landy, Valérie Biancalana, Carole Vuillerot, Anna Buj-Bello, Alessandra D'Amico, M. Annoussamy, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, Medizin, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Myotubular Myopathy, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2017
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23. Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

Author: Anamaria Bolocan, Dominique P. Germain, Susana Quijano-Roy, Michel Fardeau, Teresa Gidaro, Nathalie Blin, Brigitte Estournet, Anne-Gaëlle Le Moing, Robert Carlier, Laurent Servais, Andreea Mihaela Seferian, Valérie Allamand, Hélène Cavé, Pascale Richard, C. Gartioux, Thomas Voit, Norma B. Romero, and Clarisse Baumann
Subjects: Ullrich congenital muscular dystrophy, DNA Mutational Analysis, Muscular Dystrophies, Amino Acyl-tRNA Synthetases, medicine, Humans, Missense mutation, HRAS, Muscle Spindles, Kyphoscoliosis, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, business.industry, Skeletal muscle, Anatomy, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Female, Neurology (clinical), Differential diagnosis, business
Abstract: We report on a 5-year-old girl who presented with an association of symptoms reminiscent of an Ullrich-like congenital muscular dystrophy including congenital hypotonia, proximal joint contractures, hyperlaxity of distal joints, normal cognitive development, and kyphoscoliosis. There was an excess of neuromuscular spindles on the skeletal muscle biopsy. This very peculiar feature on muscle biopsy has been reported only in patients with mutations in the HRAS gene. Sequence analysis of the subject's HRAS gene from blood leukocytes and skeletal muscle revealed a previously described heterozygous missense mutation (c.187G>A, p. Glu63Lys). The present report thus extends the differential diagnosis of congenital muscular dystrophy with major "retractile" phenotypes and adds congenital muscular dystrophy to the clinical spectrum of HRAS-related disorders.
Published: 2014
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24. O.28Safety and tolerability of suvodirsen (WVE-210201) in patients with Duchenne muscular dystrophy: results from a phase 1 clinical trial

Author: S. Schmitz, Teresa Gidaro, F. Muntoni, V. Straub, L. Servais, L. Cripe, X. Hu, S. Lake, M. Eagle, H. Phan, Kathryn R. Wagner, M. Panzara, and P. Lonkar
Subjects: medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Phases of clinical research, medicine.disease, Neurology, Tolerability, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, In patient, Neurology (clinical), business, Genetics (clinical)
Published: 2019
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25. Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy

Author: Claude Cances, Jean-Marie Cuisset, Linda Lowes, Vincent Laugel, Laurent Servais, Teresa Gidaro, A. Chabanon, M. Annoussamy, Ulrike Schara, A. Daron, Omar Khwaja, Carole Vuillerot, Ricardo Hermosilla, J.Y. Hogrel, Andreea Mihaela Seferian, Nathalie Goemans, E. Gargaun, Yann Péréon, Pierre G. Carlier, and Christian Czech
Subjects: 0301 basic medicine, medicine.medical_specialty, Longitudinal data, business.industry, Medizin, Spinal muscular atrophy, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study
Published: 2017

26. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Author: S. Richardson, E. Kimber, H. Kim, Diana Castro, H. Johnson, A. C. Tesi Rocha, Matthias Eckenweiler, C. Manzitti, John W. Day, R. De Sanctis, M. Gormley, Mar Tulinius, Mirac Yildirim, C. M. Temucin, M. Gratacos Vinola, S. Matsumaru, F. Weber-Guzman, J. Kitsuwa-Lowe, Lavinia Fanelli, T. Sato, W. C. Virginia, J. H. Hsu, S. Nagata, A. Michoulas, Sally Dunaway, Mariacristina Scoto, R. Shell, R. Laine, D. DiBella, C. King, Jacqueline Montes, Haluk Topaloglu, Maryam Oskoui, Didem Ardicli, K. Rupprich, C. Stella, F. Dorban, Alan C Farrow-Gillespie, S. A. Choi, T. Ikai, W. C. Liang, N. Matsushima, PH Lister, Arnaud Vanlander, N. Rausch, T. T. Duong, Marika Pane, Melissa Gibbons, M. M. Homi, A. K. Kroksmark, B. Andres, Kristin J. Krosschell, S. Patnaik, L. Welsh, Eduardo F. Tizzano, M. Gallardo, Michèle Mayer, Sarada Sakamuri, W. Liew, T. Spain, M. Yang, Kayoko Saito, Edward C. Smith, L. Sanabria, Astrid Pechmann, H. Kaneko, Leslie Nelson, Basil T. Darras, C. Milleson, Janbernd Kirschner, R. Arakawa, Margot Morrison, Y. Kaburagi, P. Dinunzio, C. K.W. Joseph, M. Chadehumbe, Craig M. Zaidman, S. Nicolarsen, Hyung Ik Shin, Alberto Garaventa, James J. Dowling, J. S. Lee, K. Booker, A. Takeshita, D. McElroy, K. Carroll, D. Vens, Y. Chiba, L. Wand, C. Kelly, Luke Smith, H. Shimomura, M. Srour, J. B. Bodensteriner, B. Rippberger, A. Herbert, Eugenio Mercuri, H. Jo, J. Turner, A. Camuto, N. Parziale, J. O'Brien, N. Nelson, E. Serdaroglu, Jong-Hee Chae, V. Tahon, E. Toro Tamargo, L. Weimer, T. Voit, L. W.M. Wendy, J. Rambaud, G. Gilbert, C. Zimmerman, S. Kramer, D. McFall, Jennifer Perez, N. Berthon-Jones, Jessica Taytard, Marco Luigetti, J. Pisco Domingos, R. Van Der Looven, Genevieve D'Souza, C. Berde, E. Roland, M. de Los Angeles Tormos Munoz, J. Zigmont, S. Baily, S. Gilabert, H. Nakatsukasa, S. Trest, Bahadır Konuşkan, H. A. Ferreira Sampaio, Z. John Zhong, G. VanderVeen, V. Allen, C. Aguilar, N. Taniguchi, G. Ordonez, Elizabeth Kichula, F. Shu, M. N. Chui-San, M. Zinn, Anne M. Connolly, Ian R. Woodcock, Ayşe Karaduman, R. Haldenby, K. Hirasawa, F. Munell Casadesus, L.D.M. Peña, Vamshi K. Rao, Allan M. Glanzman, Claudia A. Chiriboga, A. Martinez Bermejo, John F. Brandsema, S. Epinosa Garcia, M. K. Schroth, T. Shibano, Richard Gee, Valeria Ricotti, Y. Ito, Y. Tanaka, S. Arpin, C. S. Yan, L. Schottlaender, Marco Piastra, M. Kauk, Francesco Muntoni, K. Sugimoto, Öznur Yilmaz, K. DeCock, Kathryn Selby, T. Yanagishita, Concetta Palermo, H. W. Chung, B. Taicher, Jiri Vajsar, K. Zilke, R. Gadeken, A. Yamauchi, Marta Bertoli, Nancy L. Kuntz, T. Tachikawa, C. Johnson, A. Mayhew, Jahannaz Dastgir, Y. J. Jong, P. C. Chou, G. Rivera, T. N. Shun, Y. H. Ju, N. Holuba La Marca, M. Toms, Matthew Civitello, Eugene Schneider, C. Lilien, S. Ito, C. Skura, Y. Yvonne, K. O'Reardon, Barry S. Russman, Janet Quigley, J. W. Said, B. Planas Pascual, R. J. Ramamurthi, Wildon Farwell, V. Selby, W. Y. Connie, M. Souris, Nicholas E. Johnson, M. Miki, N. Sponemann, Andrei Constantinescu, K. Mayne, H. H. Shih, B. Sanjanwala, Teresa Gidaro, D. Berry, Gihan Tennekoon, A. G. Le Moing, Danielle Ramsey, C. Poulin, S. Goldman, K. Watson, H. L. Teoh, N. J. Palacios, Tai-Heng Chen, A. C. Chung, Terri Carry, J. Coates, D. Zielinski, R. Vialle, F. G. Yildiz Sarikaya, Marcus Krüger, M. del Mar Garcia Romero, E. Michael, E. D. Austin, J. Janas, K. Engelstad, S. Y. Kim, M. Alavarez Molinero, Leon G. Epstein, Monique M. Ryan, Jean Flickinger, D. Benjamin, S. Wider, C. S. Davis, Jena M. Krueger, I. J.K. Janice, Darryl C. De Vivo, M. del Mar Melendez Plumed, Y. Takeshima, C. Gunbey, Serena Sivo, A. Christiaens, Q. Ollievier, Elizabeth Mirek, D. Stanford, Susan T. Iannaccone, Jonathan E. Kurz, D. Cook, C. S. Ng, A. Koka, V. Chau, M. del Pilar Tirado Requero, M. B. Gomez Garcia de la Banda, E. M. Yiu, Amy Pasternak, Rosangel Cruz, S. So, S. I. Pascual Pascual, V. G. Haliloglu, E. S. Schroers, P. Jachertz, C. Ortiz-Miller, Sandra Coppens, J. Lee, M. Popolizio, Michael Doumit, Rachel Salazar, Michelle A. Farrar, Peter G. Fuhr, M. Pedermonte, L. S. Lord-Halvorson, W. Leon, Y. S. Zeng, L. D'Argenzio, Russell J. Butterfield, C. Blomgren, Erika Finanger, S. Shea, Paola Tacchetti, N. Y. Ki, H. W. Choi, K. Oriyama, S. Wittevrongel, Catherine Siener, K. Mizuochi, M. Cowie, R. Van Coster, E. Gargaun, S. M. Scuplak, Sibylle Vogt, S. Stein, Tim Harrington, P. M. Ingelmo, J. Wootton, M. Tanyildiz, A. F. Rucian, Jonathan Marra, C. Frank Bennett, Claire L Wood, Nicolas Deconinck, Adnan Y. Manzur, Helene Verhelst, B. Purse, P. L. Léger, J. Cappell, S. Aziz-Zaman, H. Y. Wang, Claudio Bruno, S. Garcia Guixot, Robert Muni Lofra, Federica Trucco, S. M. Chun, Catherine E. Roberts, Ulrike Schara, Walter G. Bradley, K. L. De Valle, E. De Vos voor, S. Borell, A. Lim, Sophelia H. S. Chan, L. Rao, M. Shichiji, S. Rooze, T. M. Newcomb, Fouad Al-Ghamdi, Chiara Fiorillo, J. D. Endsley, L. Y. Sigurdardottir, Pallavi Anand, A. Zuffi, Julie A. Parsons, M. Kasper, A. Nishikawa, Sarah Gheuens, S. Turgeon-Desilet, T. Fujino, L. Staudt, Y. C. Wu, Jacinda B. Sampson, Paola Lanteri, Stephanie DeArmey, Partha S. Ghosh, Alexandra C. Ross, L. Adang, Laurent Servais, V. Tran, Alan Bielsky, Y. Otani, Navil F. Sethna, J. Hen, Perry B. Shieh, N. Fukuda, N. Miller, K. Eto, S. Paulose, Niklas Darin, C. Sabapathy, Robert J. Graham, Christopher Proud, Richard S. Finkel, Alexander G. Khandji, A. Della Marina, Adrian Murphy, Kathie M. Bishop, Tejaswi Kandula, Valentina Lanzillotta, Heather Szelag, Kalliopi Sofou, Y. H. Chou, Heike Koelbel, J. Eldblom, T. Lee, M. M. Martinez Moreno, Volker Straub, Laura E. Case, A. Lindstedt, G. Gili, A. Frank, H. C.C. Alvin, A. Ganfuss, Karen Herbert, Paul T. Golumbek, D. Villano, B. Wenderickx, B. C. Lim, W. S. Son, Schara, Ulrike (Beitragende*r), Ganfuss, Andrea (Beitragende*r), Koelbel, Heike (Beitragende*r), Rupprich, Katrin (Beitragende*r), Schroers, Ester Sarah (Beitragende*r), Sponemann, Nina (Beitragende*r), and Çocuk Sağlığı ve Hastalıkları
Subjects: Male, 0301 basic medicine, Pathology, Movement disorders, animal diseases, Messenger, Oligonucleotides, Medizin, Spinal Muscular Atrophies of Childhood, 0302 clinical medicine, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Survival Analysis, Survival of Motor Neuron 2 Protein, Medicine (all), Respiration, General Medicine, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Artificial, Nusinersen, medicine.symptom, medicine.medical_specialty, Spinal, Injections, 03 medical and health sciences, Atrophy, General & Internal Medicine, Settore MED/41 - ANESTESIOLOGIA, medicine, Antisense, Survival analysis, business.industry, Spinal muscular atrophy, Motor neuron, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, RNA, Infantile onset, Age of onset, business, 030217 neurology & neurosurgery
Abstract: Background: Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre–messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. Methods: We conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy. The primary end points were a motor-milestone response (defined according to results on the Hammersmith Infant Neurological Examination) and event-free survival (time to death or the use of permanent assisted ventilation). Secondary end points included overall survival and subgroup analyses of event-free survival according to disease duration at screening. Only the first primary end point was tested in a prespecified interim analysis. To control the overall type I error rate at 0.05, a hierarchical testing strategy was used for the second primary end point and the secondary end points in the final analysis. Results: In the interim analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (21 of 51 infants [41%] vs. 0 of 27 [0%], P Conclusions: Among infants with spinal muscular atrophy, those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group. Early treatment may be necessary to maximize the benefit of the drug.
Published: 2017

27. X-linked myotubular myopathy in ambulant patients

Author: J.Y. Hogrel, Jean-Michel Arnal, V. Chê, M. Annoussamy, Teresa Gidaro, A. Daron, M. Mayer, Jocelyn Laporte, C. Lilien, Valérie Biancalana, L. Servais, D. Ramsdell, Carina Wallgren-Pettersson, H. Landy, Anna Buj-Bello, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, X-linked myotubular myopathy, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2016
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28. Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

Author: J.Y. Hogrel, H. Landy, Teresa Gidaro, Ulrike Schara, E. Gargaun, A. Daron, A. Hernandez, Laurent Servais, S. Fontaine, Carole Vuillerot, Jean-Michel Arnal, Valérie Biancalana, Anna Buj-Bello, M. Annoussamy, Michèle Mayer, V. Chê, C. Lilien, A. Gangfuss, Jean-Marie Cuisset, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Medizin, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Baseline data, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Myotubular Myopathy, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2016
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29. Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers

Author: Stefano C. Previtali, J. Gray, N. Vidal, F. Porte-Thomé, J. Diaz, Jacqueline Pitchforth, J. Brimble, Teresa Gidaro, L. Servais, Maria Grazia Natali Sora, Alberto A. Zambon, C. Laveille, Simonetta Gerevini, Francesco Muntoni, D. Duchene, K. Groves, H. Gheit, V. Chê, K. Maresh, and M. Annoussamy
Subjects: Oncology, medicine.medical_specialty, business.industry, Safety tolerability, 030204 cardiovascular system & hematology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Neurology, Pharmacokinetics, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, Rimeporide, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2017
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30. GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective study

Author: J. Shah, Teresa Gidaro, Ivailo Tournev, Tahseen Mozaffar, S. Krolczyk, Tony Koutsoukos, Hanns Lochmüller, Mark A. Tarnopolsky, Anthony Behin, and Oksana Pogoryelova
Subjects: medicine.medical_specialty, business.industry, GNE MYOPATHY, 03 medical and health sciences, 0302 clinical medicine, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Cardiology, Muscle strength, 030212 general & internal medicine, Neurology (clinical), Prospective cohort study, business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2017
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31. First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1

Author: Andreea Mihaela Seferian, K. Boukouti, M. Annousamy, L. Flet Berliac, L. Fiedler, Claude Cances, Carole Vuillerot, A. Daron, C. Lilien, H. Armier, A. Colcer, K. Aragon-Gawinska, L. Servais, S. Gilabert, A. De, E. Gargaun, and Teresa Gidaro
Subjects: medicine.medical_specialty, business.industry, Spinal muscular atrophy, medicine.disease, 030227 psychiatry, Surgery, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Medicine, In patient, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2017
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32. Activities of daily living detection using home activity monitoring device in Duchenne muscular dystrophy patients

Author: Andreea Mihaela Seferian, M. Grelet, E. Gasnier, B. Beaufils, Teresa Gidaro, E. Dorveaux, David Vissiere, Amélie Moraux, and L. Servais
Subjects: Activity monitoring, medicine.medical_specialty, Activities of daily living, Neurology, business.industry, Duchenne muscular dystrophy, Pediatrics, Perinatology and Child Health, Physical therapy, Medicine, Neurology (clinical), business, medicine.disease, Genetics (clinical)
Published: 2017
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33. CONGENITAL MYOPATHIES: GENERAL AND RYR1

Author: S. Coppen, Teresa Gidaro, Alan H. Beggs, A. Koparir, Laurent Servais, Isabelle Duband-Goulet, Ana Ferreiro, L. Davignon, F. Catervi, Eva Cabet, Casie A. Genetti, and E. Pierce-Hoffman
Subjects: RYR1, Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Genetics (clinical)
Published: 2018
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34. Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1

Author: Gwenn Ollivier, Damien Bachasson, Tanya Stojkovic, Isabelle Ledoux, Guillaume Bassez, Amélie Moraux, Anthony Behin, Valérie Decostre, Jean-Yves Hogrel, Jack Puymirat, Teresa Gidaro, Bruno Eymard, Laurent Servais, and Luc J. Hébert
Subjects: Adult, Male, 030506 rehabilitation, medicine.medical_specialty, STRIDE, Walk Test, Handgrip myotonia, Myotonic dystrophy, Body Mass Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Physical medicine and rehabilitation, Accelerometry, medicine, Humans, Myotonic Dystrophy, Force platform, Muscle, Skeletal, Gait, Postural Balance, Genetics (clinical), Muscle Weakness, Hand Strength, business.industry, Muscle weakness, Middle Aged, medicine.disease, Biomechanical Phenomena, body regions, Preferred walking speed, medicine.anatomical_structure, Neurology, Gait analysis, Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), medicine.symptom, Ankle, 0305 other medical science, business, human activities, 030217 neurology & neurosurgery
Abstract: This study evaluated gait using lower-trunk accelerometry and investigated relationships between gait abnormalities, postural instability, handgrip myotonia, and weakness in lower-limb and axial muscle groups commonly affected in myotonic dystrophy type 1 (DM1). Twenty-two patients (11 men, 11 women; age = 42 years (range: 26–51)) with DM1 and twenty healthy controls (9 men, 11 women; age = 44 years (range: 24–50)) participated in this study. Gait analysis using lower-trunk accelerometry was performed at self-selected walking pace. Postural stability was measured via center of pressure displacement analysis using a force platform during eyes-closed normal stance. Handgrip myotonia was quantified using force-relaxation curve modeling. Patients displayed lower walking speed, stride frequency, stride length, gait regularity, and gait symmetry. Strength of ankle plantar flexors, ankle dorsal flexors and neck flexors correlated with interstride regularity in the vertical direction (ρ = 0.57, ρ = 0.59, and ρ = 0.44, respectively; all P
Published: 2015

35. Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study

Author: T. Voit, Gwenn Ollivier, Carsten G. Bönnemann, C. Lilien, Jean-Marie Cuisset, A.G. Le Moing, Anna Buj-Bello, Francesco Muntoni, M. Nelken, J.Y. Hogrel, Ruxandra Cardas, Federico Mingozzi, N. R'guiba, Laurent Servais, D. Ramsdell, Teresa Gidaro, H. Landy, Valérie Biancalana, Michèle Mayer, M. Annoussamy, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, Pediatrics, medicine.medical_specialty, Longitudinal study, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 3. Good health, Natural history, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Myotubular Myopathy, Functional status, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2015
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36. Non-ambulant Duchenne patients theoretically treatable by Exon 53 skipping have severe phenotype

Author: Laurent Servais, Marie Montus, Caroline Le Guiner, Rabah Ben Yaou, Mélanie Annoussamy, Amélie Moraux, Jean-Yves Hogrel, Andreea M. Seferian, Karima Zehrouni, Anne-Gaëlle Le Moing, Teresa Gidaro, Catherine Vanhulle, Vincent Laugel, Nina Butoianu, Jean-Marie Cuisset, Pascal Sabouraud, Claude Cances, Andrea Klein, France Leturcq, Philippe Moullier, Thomas Voit, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Généthon, Laboratoire de Thérapie Génique Translationnelle des Maladies Génétiques (Inserm UMR 1089), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), University Children’s Hospital Zurich, Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), École pratique des hautes études (EPHE), Hôpital Charles Nicolle [Rouen]-CHU Rouen, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], University of Zurich, and Servais, L
Subjects: Research Report, musculoskeletal diseases, Duchenne muscular dystrophy, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Population, phenotype-genotype correlation, 610 Medicine & health, 03 medical and health sciences, Exon, outcome measures, 0302 clinical medicine, medicine, education, 030304 developmental biology, Muscle contracture, 0303 health sciences, education.field_of_study, Ejection fraction, business.industry, medicine.disease, Exon skipping, nervous system diseases, Clinical trial, 2728 Neurology (clinical), Neurology, 10036 Medical Clinic, 2808 Neurology, Cohort, Cancer research, Neurology (clinical), business, 030217 neurology & neurosurgery, exon skipping
Abstract: Background: Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population. Objectives: Our objective was to compare the clinical and functional statuses of non-ambulant DMD patients theoretically treatable by exon 53 skipping and of DMD patients with other mutations. Methods: We first compared fifteen non-ambulant DMD patients carrying deletions theoretically treatable by exon 53 skipping (DMD-53) with fifteen closely age-matched DMD patients with mutations not treatable by exon 53 skipping (DMD-all-non-53) then with fifteen DMD patients carrying deletions not treatable by exon 53 skipping (DMD-del-non-53). Results: We found that DMD-53 patients had a lower left ventricular ejection fraction, more contractures and they tend to have weaker grips and pinch strengths than other DMD patients. DMD-53 patients lost ambulation significantly younger than other DMD patients. This result was confirmed by comparing ages at loss of ambulation in all non-ambulant DMD patients of the DMD cohort identified in a molecular diagnostic lab. Conclusions: These prospective and retrospective data demonstrate that DMD-53 patients have clinically more severe phenotypes than other DMD patients.
Published: 2015
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37. Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial

Author: Severine Denis, Kim Maincent, S. Wittevrongel, Nicolas Deconinck, Frauke Van Parys, Susana Quijano-Roy, Jean-Marie Cuisset, Aurélie Canal, Laurent Servais, Vincent Tiffreau, Jean-Yves Hogrel, Virginie Jousten, Teresa Gidaro, Anne Gaelle Le Moing, W. Vereecke, Valérie Decostre, Thomas Voit, Amélie Moraux, Michèle Mayer, M. Annoussamy, Oumar Diebate, Andreea Mihaela Seferian, Institute of Myology Paris France, Department of child neurology, CHU Amiens-Picardie, Universiteit Gent = Ghent University [Belgium] (UGENT), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Department of pediatrics, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of physical medicine and rehabilitation, Université du Littoral Côte d'Opale (ULCO), Centre de références maladies neuromusculaires, CHU Raymond Poincaré, Thérapie des maladies du muscle strié, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), HAL UPMC, Gestionnaire, Universiteit Gent = Ghent University (UGENT), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Univ. Littoral Côte d’Opale, Univ. Artois, Université de Lille, Centre de Recherche en Informatique, Signal et Automatique de Lille (CRIStAL) - UMR 9189, Centre de recherche en myologie, Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 [URePSSS], Centre Hospitalier Universitaire de Liège [CHU-Liège], and Université de Versailles Saint-Quentin-en-Yvelines [UVSQ]
Subjects: Male, Duchenne muscular dystrophy, lcsh:Medicine, Pinch Strength -- physiology, Spinal Muscular Atrophies of Childhood, Muscular Atrophy, Spinal -- physiopathology, Spinal Muscular Atrophies of Childhood -- physiopathology, 0302 clinical medicine, Medicine, Pinch Strength, Young adult, lcsh:Science, Child, 0303 health sciences, Multidisciplinary, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Hand Strength, Sciences bio-médicales et agricoles, medicine.anatomical_structure, Upper limb, Female, Research Article, Adult, medicine.medical_specialty, Adolescent, Muscular Atrophy, Spinal, Upper Extremity, 03 medical and health sciences, Young Adult, Hand Strength -- physiology, Upper Extremity -- physiopathology, Hand strength, Multicenter trial, Humans, 030304 developmental biology, Noninvasive Ventilation, business.industry, lcsh:R, Spinal muscular atrophy, medicine.disease, Clinical trial, Physical therapy, lcsh:Q, Observational study, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Follow-Up Studies
Abstract: Assessment of the upper limb strength in non-ambulant neuromuscular patients remains challenging. Although potential outcome measures have been reported, longitudinal data demonstrating sensitivity to clinical evolution in spinal muscular atrophy patients are critically lacking. Our study recruited 23 non-ambulant patients, 16 patients (males/females = 6/10; median age 15.4 years with a range from 10.7 to 31.1 years) with spinal muscular atrophy type II and 7 patients (males/females = 2/5; median age 19.9 years with a range from 8.3 to 29.9 years) with type III. The Brooke functional score was on median 3 with a range from 2 to 6. The average total vital capacity was 46%, and seven patients required non-invasive ventilation at night. Patients were assessed at baseline, 6 months, and 1 year using the Motor Function Measure and innovative devices MyoGrip, MyoPinch, and MoviPlate, which assess handgrip strength, key pinch strength, and hand/finger extension-flexion function, respectively. The study demonstrated the feasibility and reliability of these measures for all patients, and sensitivity to negative changes after the age of 14 years. The younger patients showed an increase of the distal force in the follow-up period. The distal force measurements and function were correlated to different functional scales. These data represent an important step in the process of validating these devices as potential outcome measures for future clinical trials., info:eu-repo/semantics/published
Published: 2015
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38. Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study

Author: Hanns Lochmüller, Teresa Gidaro, Tony Koutsoukos, Oksana Pogoryelova, E. Connor, Mark A. Tarnopolsky, Anthony Behin, I. Tourney, and Tahseen Mozaffar
Subjects: 0301 basic medicine, medicine.medical_specialty, Pediatrics, business.industry, GNE MYOPATHY, Surgery, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Muscle strength, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study
Published: 2016
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39. Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

Author: Isabelle Desguerre, Andreea Mihaela Seferian, Jean-Yves Hogrel, Aurélie Canal, Jean Marie Cuisset, Teresa Gidaro, Anne-Gaëlle Le Moing, Frauke Van Parys, Vincent Tiffreau, Michèle Mayer, Amélie Moraux, S. Wittevrongel, Severine Denis, W. Vereecke, Nicolas Deconinck, Susana Quijano-Roy, Thomas Voit, Valérie Decostre, Kim Maincent, Christine Thémar-Noel, Laurent Servais, M. Annoussamy, Oumar Diebate, Virginie Jousten, Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Amiens-Picardie, Universiteit Gent = Ghent University (UGENT), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille, Centre Hospitalier Universitaire de Liège (CHU-Liège), Hôpital Raymond Poincaré [AP-HP], Centre de Recherche en Myologie, Universiteit Gent = Ghent University [Belgium] (UGENT), Université d'Artois (UA)-Université de Lille-Université du Littoral Côte d'Opale (ULCO), Univ. Littoral Côte d’Opale, Univ. Artois, Université de Lille, Centre de Recherche en Informatique, Signal et Automatique de Lille (CRIStAL) - UMR 9189, Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 [URePSSS], Centre Hospitalier Universitaire de Liège [CHU-Liège], and Université de Lille, LillOA
Subjects: Male, Vital capacity, Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Mesh:Muscular Dystrophy, lcsh:Medicine, Mesh:Adult, Mesh:Adolescent, Mesh:Duchenne/drug therapy, Muscular dystrophy, Mesh:Muscle Strength*/drug effects, lcsh:Science, Child, Mesh:Duchenne/physiopathology, Multidisciplinary, Mesh:Recovery of Function*/drug effects, Sciences bio-médicales et agricoles, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, Upper limb, Female, Research Article, Mesh:Follow-Up Studies, Mesh:Female, Adult, medicine.medical_specialty, Mesh:Child, Adolescent, Mesh:Male, Mesh:Young Adult, Upper Extremity, FEV1/FVC ratio, Young Adult, Physical medicine and rehabilitation, Upper Extremity -- physiopathology, Muscular Dystrophy, Duchenne -- drug therapy -- physiopathology, Hand strength, Multicenter trial, medicine, Humans, Muscle Strength, business.industry, lcsh:R, Recovery of Function -- drug effects, Recovery of Function, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, Mesh:Humans, Muscle Strength -- drug effects, Mesh:Upper Extremity/physiopathology, Physical therapy, lcsh:Q, business, Follow-Up Studies
Abstract: Upper limb evaluation of patients with Duchenne Muscular Dystrophy is crucially important to evaluations of efficacy of new treatments in non-ambulant patients. In patients who have lost ambulation, there are few validated and informative outcome measures. In addition, longitudinal data demonstrating sensitivity to clinical evolution of outcome measures over short-term periods are lacking., info:eu-repo/semantics/published
Published: 2015
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40. Results of a Phase 1b/2 Study of ATYR1940 in adolescents and young adults with early onset facioscapulohumeral muscular dystrophy (FSHD) (ATYR1940-C-003)

Author: S. Shukla, L. Servais, G. Walker, Teresa Gidaro, L. Maggi, John W. Day, Russell J. Butterfield, and Katherine D. Mathews
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, Neurology, Pediatrics, Perinatology and Child Health, medicine, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Young adult, business, Genetics (clinical), Early onset
Published: 2017
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41. Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial

Author: Jean-Marie Cuisset, A. Chabanon, L. Servais, Teresa Gidaro, Carole Vuillerot, David Vissiere, M. Annoussamy, Andreea Mihaela Seferian, Christian Czech, Amélie Moraux, Ricardo Hermosilla, E. Toledano, A. Daron, Omar Khwaja, Claude Cances, G. Quicke, E. Gasnier, E. Gargaun, and Yann Péréon
Subjects: medicine.medical_specialty, Observational Trial, business.industry, Spinal muscular atrophy, medicine.disease, Activity monitoring, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), business, Genetics (clinical)
Published: 2017
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42. Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study

Author: E. Marucco, L. Servais, E. Gargaun, L. Flet Berliac, Teresa Gidaro, C. Lilien, S. Gilabert, Carole Vuillerot, A. Daron, K. Aragon-Gawinska, Andreea Mihaela Seferian, H. Armier, Claude Cances, A. De, and L. Fiedler
Subjects: medicine.medical_specialty, business.industry, Safety tolerability, SMA, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Nusinersen, Neurology (clinical), Clinical efficacy, Prospective cohort study, business, Genetics (clinical)
Published: 2017
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43. Longitudinal home-monitoring data in non-ambulant patients with Duchenne muscular atrophy

Author: E. Gargaun, Teresa Gidaro, S. Gillabert, David Vissiere, V. Chê, E. Gasnier, G. Quicke, Amélie Moraux, L. Servais, C. Lilien, Andreea Mihaela Seferian, and M. Annoussamy
Subjects: medicine.medical_specialty, Atrophy, Physical medicine and rehabilitation, Neurology, business.industry, Monitoring data, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.disease, business, Genetics (clinical)
Published: 2017
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44. ActiMyo home monitoring in adult patients with limb girdle muscular dystrophy type 2B and facioscapulohumeral muscular dystrophy in study ATYR 1940-C-004

Author: Kathryn R. Wagner, Tahseen Mozaffar, A. Richiardi, Amélie Moraux, Shahram Attarian, L. Servais, G. Walker, Stanley Iyadurai, S. Shukla, M. Grelet, John Vissing, David Vissiere, M. Villeret, M. Annoussamy, Teresa Gidaro, and E. Gasnier
Subjects: Neurology, Adult patients, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Anatomy, business, medicine.disease, Genetics (clinical), Limb-girdle muscular dystrophy
Published: 2017
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45. Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

Author: E. Gargaun, V. Chê, Ulrike Schara, Carole Vuillerot, S. Fontaine, Valérie Biancalana, A. Daron, Teresa Gidaro, M. Annoussamy, J.Y. Hogrel, A. Hernandez, C. de Lattre, Anna Buj-Bello, L. Servais, Alessandra D'Amico, M. Mayer, Rémi Bellance, Jean-Marie Cuisset, C. Lilien, H. Landy, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, Pediatrics, medicine.medical_specialty, Longitudinal data, business.industry, Medizin, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Myotubular Myopathy, Medicine, Neurology (clinical), business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study, 030304 developmental biology
Abstract: International audience
Published: 2017
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46. G.P.39

Author: A.G. Le Moing, Teresa Gidaro, T. Voit, Andrea Klein, J. Fluss, C. Lilien, Carsten G. Bönnemann, M. Annoussamy, H. Landy, Gwenn Ollivier, Francesco Muntoni, D. Bharucha, Federico Mingozzi, Ulrike Schara, J. Laporte, Pierre-Yves Jeannet, Laurent Servais, Valérie Biancalana, D. Ramsdell, Anna Buj-Bello, Andreea Mihaela Seferian, M. Nelken, J.Y. Hogrel, Kimberly Amburgey, Michèle Mayer, Alessandra D'Amico, Nicolas Deconinck, James J. Dowling, Jean-Marie Cuisset, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: Psychomotor learning, Weakness, medicine.medical_specialty, Pediatrics, business.industry, Muscle weakness, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Disease, Placebo, 3. Good health, Pulmonary function testing, Neurology, Quality of life, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), medicine.symptom, Prospective cohort study, business, Genetics (clinical), ComputingMilieux_MISCELLANEOUS
Abstract: X-linked myotubular myopathy (XLMTM) is the most severe form of centronuclear myopathy affecting approximately 1 in 50,000 male newborns. Phenotype varies from mild to severe. Several cases of affected females are also reported.presently, there is no effective treatment for the muscle weakness in XLMTM patients. Several promising strategies, including protein replacement therapy and gene therapy, are currently in development.due to the variability of the phenotype, it is important to determine the best outcome measure to assess the efficacy of potential therapies and the prognostic factors for the disease. We present here a prospective study of the pathophysiology of XLMTM to characterize the disease course by using standardized evaluations. A total of 60 patients with XLMTM, male or symptomatic female of any age, are planned to be enrolled in North America and Europe. Visit frequency and assessments are adjusted to age, ambulatory and respiratory status. Evaluations include standard liver ultrasound, clinical exam, ophthalmoplegia assessment, pulmonary function tests, strength and motor function assessment by using upper limb-specific devices and common scales, six-minute walk test, activity monitoring using the Actimyo device and quality of life assessment. Blood samples are collected to test immunization against AAV and to quantify MTM1 protein level. Urinary creatinine excretion is assessed every 6 months. Data from the patients’ usual follow-up care are collected from their medical files including psychomotor development, respiratory, cardiac, hematology kidney and liver functions, feeding status and ophthalmologic assessment. According to the weakness of the patient, if needed, the assessments by a physiotherapist can be performed at home. The obtained data will help to characterize the course of disease and the disease spectrum of XLMTM and may help to empower future therapeutic studies as well as to eventually substitute for placebo groups.
Published: 2014
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47. Improved Muscular Weakness During Asthma Exacerbation

Author: Stephanie Delstanche, Teresa Gidaro, and Laurent Servais
Subjects: Male, 0301 basic medicine, medicine.medical_specialty, Muscle Proteins, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Myasthenia Gravis, Humans, Medicine, Albuterol, Anti-Asthmatic Agents, Asthma, Muscle Weakness, Asthma exacerbations, Electromyography, business.industry, Muscular weakness, Muscle weakness, Middle Aged, medicine.disease, 030104 developmental biology, Lordosis, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
Published: 2017
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48. Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients

Author: Jeanne Lainé, Sophie Périé, Teresa Gidaro, Capucine Trollet, Gillian Butler-Browne, Jean Lacau St Guily, Elisa Negroni, Vincent Mouly, and Massimiliano Mirabella
Subjects: Adult, Male, Pathology, medicine.medical_specialty, Fluorescent Antibody Technique, Pathology and Forensic Medicine, Oculopharyngeal muscular dystrophy, Pharyngeal muscles, Cellular and Molecular Neuroscience, Atrophy, Ptosis, Muscular Dystrophy, Oculopharyngeal, Fibrosis, medicine, Humans, Muscular dystrophy, Aged, Aged, 80 and over, business.industry, Dystrophy, PAX7 Transcription Factor, General Medicine, Anatomy, Middle Aged, medicine.disease, Pax7, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Neurology, OPMD, Pharyngeal Muscles, Female, Neurology (clinical), Inclusion body myositis, medicine.symptom, business, human activities
Abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant inherited dystrophy caused by an abnormal trinucleotide repeat expansion in the poly(A)-binding-protein-nuclear 1 (PABPN1) gene. Primary muscular targets of OPMD are the eyelid elevator and pharyngeal muscles, including the cricopharyngeal muscle (CPM), the progressive involution of which leads to ptosis and dysphagia, respectively. To understand the consequences of PABPN1 polyalanine expansion in OPMD, we studied muscle biopsies from 14 OPMD patients, 3 inclusion body myositis patients, and 9 healthy controls. In OPMD patient CPM (n = 6), there were typical dystrophic features with extensive endomysial fibrosis and marked atrophy of myosin heavy-chain IIa fibers. There were more PAX7-positive cells in all CPM versus other muscles (n = 5, control; n = 3, inclusion body myositis), and they were more numerous in OPMD CPM versus control normal CPM without any sign of muscle regeneration. Intranuclear inclusions were present in all OPMD muscles but unaffected OPMD patient muscles (i.e. sternocleidomastoid, quadriceps, or deltoid; n = 14) did not show evidence of fibrosis, atrophy, or increased PAX7-positive cell numbers. These results suggest that the specific involvement of CPM in OPMD might be caused by failure of the regenerative response with dysfunction of PAX7-positive cells and exacerbated fibrosis that does not correlate with the presence of PABPN1 inclusions.
Published: 2013

49. Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Author: A. Gangfuss, M. Villeret, E. Gargaun, Yann Péréon, Jean-Marie Cuisset, Laurent Servais, Anne Marquet, A. Phelep, Vincent Laugel, A. Daron, Nathalie Goemans, Carole Vuillerot, A. Chabanon, S. Fontaine, Teresa Gidaro, L. De Waele, M. Annoussamy, Claude Cances, and Ulrike Schara
Subjects: 0301 basic medicine, medicine.medical_specialty, business.industry, Medizin, Spinal muscular atrophy, Baseline data, 030105 genetics & heredity, SMA, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study
Published: 2016
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50. Assessment of grip strength in Duchenne muscular dystrophy

Author: Aurélie Canal, Teresa Gidaro, Gwenn Ollivier, Valérie Decostre, L. Servais, Andreea Mihaela Seferian, J.Y. Hogrel, Amélie Moraux, and C. Lilien
Subjects: medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, medicine.disease, 03 medical and health sciences, Grip strength, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, 030212 general & internal medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2016
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