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1. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

Author

van Cruchten, Remco, van As, Daniël, Glennon, Jeffrey, van Engelen, Baziel, Okkersen, K, Jimenez-Moreno, C, Wenninger, S, Daidj, F, Cumming, S, Littleford, R, Monckton, D, Lochmüller, H, Catt, M, Faber, C, Hapca, A, Donnan, P, Gorman, G, Bassez, G, Schoser, B, Knoop, H, Treweek, S, Wansink, Derick, Impens, Francis, Gabriels, Ralf, Claeys, Tine, Ravel-Chapuis, Aymeric, Jasmin, Bernard, Mahon, Niamh, Nieuwenhuis, Sylvia, Martens, Lennart, Novak, Petr, Furling, Denis, Baak, Arie, Gourdon, Genevieve, Mackenzie, Alex, Martinat, Cecile, Neault, Nafisa, Roos, Andreas, Duchesne, Elise, Salz, Renee, Thompson, Rachel, Baghdoyan, Sandrine, Varghese, Anu, Blom, Paul, Spendiff, Sally, Manta, Alexander, Medical Psychology, APH - Mental Health, Radboud University Medical Center [Nijmegen], University College Dublin [Dublin] (UCD), Donders Institute for Brain, Cognition and Behaviour, Radboud University [Nijmegen], Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Newcastle University [Newcastle], Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Vlaams Instituut voor Biotechnologie [Ghent, Belgique] (VIB), Universiteit Gent = Ghent University [Belgium] (UGENT), Centre de recherche en Myologie – U974 SU-INSERM, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

Subjects
Lifestyle intervention, Myotonic dystrophy type 1, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Therapeutic Response, Gene Expression, Peripheral blood, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Nerve Tissue Proteins, General Medicine, Biomarker, HSP40 Heat-Shock Proteins, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], All institutes and research themes of the Radboud University Medical Center, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Humans, Myotonic Dystrophy, RNA, Messenger, RNA-seq, Carrier Proteins, Trinucleotide Repeat Expansion, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]
Abstract

Background Myotonic dystrophy type 1 (DM1) is an incurable multisystem disease caused by a CTG-repeat expansion in the DM1 protein kinase (DMPK) gene. The OPTIMISTIC clinical trial demonstrated positive and heterogenous effects of cognitive behavioral therapy (CBT) on the capacity for activity and social participations in DM1 patients. Through a process of reverse engineering, this study aims to identify druggable molecular biomarkers associated with the clinical improvement in the OPTIMISTIC cohort. Methods Based on full blood samples collected during OPTIMISTIC, we performed paired mRNA sequencing for 27 patients before and after the CBT intervention. Linear mixed effect models were used to identify biomarkers associated with the disease-causing CTG expansion and the mean clinical improvement across all clinical outcome measures. Results We identified 608 genes for which their expression was significantly associated with the CTG-repeat expansion, as well as 1176 genes significantly associated with the average clinical response towards the intervention. Remarkably, all 97 genes associated with both returned to more normal levels in patients who benefited the most from CBT. This main finding has been replicated based on an external dataset of mRNA data of DM1 patients and controls, singling these genes out as candidate biomarkers for therapy response. Among these candidate genes were DNAJB12, HDAC5, and TRIM8, each belonging to a protein family that is being studied in the context of neurological disorders or muscular dystrophies. Across the different gene sets, gene pathway enrichment analysis revealed disease-relevant impaired signaling in, among others, insulin-, metabolism-, and immune-related pathways. Furthermore, evidence for shared dysregulations with another neuromuscular disease, Duchenne muscular dystrophy, was found, suggesting a partial overlap in blood-based gene dysregulation. Conclusions DM1-relevant disease signatures can be identified on a molecular level in peripheral blood, opening new avenues for drug discovery and therapy efficacy assessments.

Published
2022

2. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

Author

Semplicini, C., de Antonio, M., Taouagh, N., Béhin, A., Bouhour, F., Echaniz-Laguna, A., Magot, A., Nadaj-Pakleza, A., Orlikowski, D., Sacconi, S., Salort-Campana, E., Solé, G., Tard, Celine, Zagnoli, F., Jean-Yves, H., Hamroun, D., Laforêt, P., Attarian, S., Aubé-Nathier, A. C., Arrassi, A., Bassez, G., Bedat-Millet, A. L., Bouibede, F., Boyer, F. C., Caillaud, C., Canal, A., Carlier, R. Y., Chanson, J. B., Chapon, F., Cintas, P., Deibener-Kaminsky, J., Demurger, F., Desnuelle, C., Durieu, I., Eymard, B., Feasson, L., Fournier, M., Froissart, R., Furby, A., Garcia, P. Y., Germain, D. P., Ghorab, K., Morales, R. J., Krim, E., Labauge, P., Lacour, A., Lagrange, E., Lefeuvre, C., Leguy-Seguin, V., Leonard-Louis, S., Magy, L., Masseau, A., Michaud, M., Minot-Myhié, M. C., Nicolas, G., Nollet, S., Not, A., Noury, J. B., Ollivier, G., Péréon, Y., Perez, Thierry, Perniconi, B., Piraud, M., Petiot, P., Pouget, J., Praline, J., Prigent, H., Renard, D., Spinazzi, M., Stojkovic, T., Taithe, F., Tiffreau, Vincent, Vincent, D., Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), and Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Registry, alglucosidase alfa, Adolescent, [SDV]Life Sciences [q-bio], Walk Test, Disease, Sitting, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, Glycogen storage disease type II, Genetics, medicine, Humans, Respiratory function, Prospective Studies, Registries, Child, Alglucosidase alfa, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, late onset Pompe disease, business.industry, 030305 genetics & heredity, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, medicine.disease, Respiratory Function Tests, Treatment Outcome, Ceiling effect, Female, France, business, medicine.drug, enzyme replacement therapy
Abstract

Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two-phase model better described the changes in distance traveled in the 6-minute walk test and MFM. 6MWT showed an initial significant increase (1.4% ± 0.5/year) followed by a progressive decline (-2.3%/year), with a cut-off point at 2.2 years. A similar pattern was observed in total MFM score (6.6% ± 2.3/year followed by a - 1.1%/year decline after 0.5 years). A single-phase decline with a slope of -0.9 ± 0.1%/year (P < .001) was observed for FVC, and MEP remained stable over the all duration of follow-up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.

Published
2020

3. 222nd ENMC International Workshop: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016

Author

Wood, L., Bassez, G., Engelen, B.G.M. van, Heerschap, A., Lochmuller, H., and Schoser, B.

Subjects
All institutes and research themes of the Radboud University Medical Center, Urological cancers Radboud Institute for Molecular Life Sciences [Radboudumc 15], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
Abstract

Contains fulltext : 192608.pdf (Publisher’s version ) (Closed access)

Published
2018

4. Eye Symptoms and Ophthalmologic Care in a Myotonic Dystrophy Type 1 (DM1)

Author

Geille, A., Brignol, T.N., Reveillere, Christian, De Antonio, M., Bassez, G., Qualité de vie et Santé psychologique [Tours] (QualiPsy - E.E. 1901), Université de Tours (UT), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Reveillere, Christian, and Université de Tours

Subjects
[SHS.PSY] Humanities and Social Sciences/Psychology, [SHS.PSY]Humanities and Social Sciences/Psychology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2019

5. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease (vol 13, 155, 2018)

Author

Wood, L, Bassez, G, Bleyenheuft, C, Campbell, C, Cossette, L, Jimenez-Moreno, AC, Dai, Y, Dawkins, H, Diaz-Manera, J, Dogan, C, el Sherif, R, Fossati, B, Graham, C, Hilbert, J, Kastreva, K, Kimura, E, Korngut, L, Kostera-Pruszczyk, A, Lindberg, C, Lindvall, B, Luebbe, E, Lusakowska, A, Mazanec, R, Meola, G, Orlando, L, Takahashi, MP, Peric, S, Puymirat, J, Rakocevic-Stojanovic, V, Rodrigues, M, Roxburgh, R, Schoser, B, Segovia, S, Shatillo, A, Thiele, S, Tournev, I, van Engelen, B, Vohanka, S, and Lochmuller, H

Published
2019

7. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Author

Masat, Elisa, Laforêt, Pascal, De Antonio, Marie, Corre, Guillaume, Perniconi, Barbara, Taouagh, Nadjib, Mariampillai, Kuberaka, Amelin, Damien, Mauhin, Wladimir, Hogrel, Jean-Yves, Caillaud, Catherine, Ronzitti, Giuseppe, Puzzo, Francesco, Kuranda, Klaudia, Colella, Pasqualina, Mallone, Roberto, Benveniste, Olivier, Mingozzi, Federico, Bassez, G., Bedat-Millet, A. L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Furby, A., Hamroun, D., Ferrer, X., Solé, G., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Lacour, A., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M. -C., Nadaj-Pakleza, A., Nathier, C., Orlikowski, D., Pellegrini, N., Petiot, P., Praline, J., Lofaso, F., Prigent, H., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F., 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 Myologie, 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), Centre de Recherche des Cordeliers (CRC), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Généthon, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de biochimie métabolique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de diabétologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Association française contre les myopathies ( AFM-Téléthon ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), 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)-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 des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), GENETHON, Genethon, DHUI2B, CHU Pitié-Salpêtrière [APHP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Université Pierre et Marie Curie - Paris 6 [UPMC], CHU Necker - Enfants Malades [AP-HP], Hôpital Cochin [AP-HP], Hôpital Henri Mondor, CHU Rouen, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Centre Hospitalier Universitaire de Reims [CHU Reims], CHU de Bordeaux Pellegrin [Bordeaux], CHU Caen, Centre d'investigation clinique de Toulouse [CIC 1436], Centre Hospitalier Lyon Sud [CHU - HCL] [CHLS], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] [CHU ST-E], CHU Montpellier, CHU Bordeaux [Bordeaux], Hôpital de l'Hôtel Dieu [CHU-HCL], Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Centre hospitalier universitaire de Nantes [CHU Nantes], CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire d'Angers [CHU Angers], Hôpital Raymond Poincaré [AP-HP], Hôpital de la Croix-Rousse [CHU - HCL], Centre Hospitalier Régional Universitaire de Tours [CHRU Tours], Centre Hospitalier Universitaire de Nice [CHU Nice], Hôpital de la Timone [CHU - APHM] [TIMONE], Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 [URePSSS], Hôpital d'Instruction des Armées Clermont Tonnerre, Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), and HAL UPMC, Gestionnaire

Subjects
0301 basic medicine, Adult, Male, Chemokine, congenital, hereditary, and neonatal diseases and abnormalities, [SDV.IMM] Life Sciences [q-bio]/Immunology, T cell, T-Lymphocytes, Antibodies, Article, 03 medical and health sciences, 0302 clinical medicine, Immune system, Medicine, [ SDV.IMM ] Life Sciences [q-bio]/Immunology, Humans, Enzyme Replacement Therapy, Age of Onset, Aged, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Multidisciplinary, biology, business.industry, Glycogen Storage Disease Type II, Immunogenicity, Case-control study, Antibody titer, nutritional and metabolic diseases, alpha-Glucosidases, Enzyme replacement therapy, Dendritic Cells, [ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, Case-Control Studies, Immunoglobulin G, Immunology, biology.protein, Interleukin-2, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Antibody, business, 030217 neurology & neurosurgery
Abstract

Immunogenicity of recombinant human acid-alpha glucosidase (rhGAA) in enzyme replacement therapy (ERT) is a safety and efficacy concern in the management of late-onset Pompe disease (LOPD). However, long-term effects of ERT on humoral and cellular responses to rhGAA are still poorly understood. To better understand the impact of immunogenicity of rhGAA on the efficacy of ERT, clinical data and blood samples from LOPD patients undergoing ERT for >4 years (n = 28) or untreated (n = 10) were collected and analyzed. In treated LOPD patients, anti-rhGAA antibodies peaked within the first 1000 days of ERT, while long-term exposure to rhGAA resulted in clearance of antibodies with residual production of non-neutralizing IgG. Analysis of T cell responses to rhGAA showed detectable T cell reactivity only after in vitro restimulation. Upregulation of several cytokines and chemokines was detectable in both treated and untreated LOPD subjects, while IL2 secretion was detectable only in subjects who received ERT. These results indicate that long-term ERT in LOPD patients results in a decrease in antibody titers and residual production of non-inhibitory IgGs. Immune responses to GAA following long-term ERT do not seem to affect efficacy of ERT and are consistent with an immunomodulatory effect possibly mediated by regulatory T cells.

Published
2016

8. [Management of muscle and nerve biopsies: expert guidelines from two French professional societies, Société française de myologie et de l'Association française contre les myopathies] : Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d'experts sous l'égide de la Société française de neuropathologie, de la Société française de myologie et de l'Association française contre les myopathies

Author

Uro-Soste, E., Fernandez, C., Authier, François-Jérôme, Bassez, G., Butori, C., Chapon, F., Delisle, M.-B., Dubourg, O., Feasson, L., Gherardi, R., Lacroix, C., Laquerriere, A., Letournel, F., Magy, Laurent, Maisonobe, T., Marcorelles, Pascale, Maurage, C.-A., Mezin, P., Mussini, J.-M., Penisson-Besnier, I., Romero, N.-B., Streichenberger, N., Vallat, Jean-Michel, Viennet, G., Vital, A., Voit, T., Boucharef, W., Figarella-Branger, D., Renseigné, Non, Service d'anatomie pathologique et histologie-cytologie [Rangueil], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Centre de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, Service d'anatomie pathologique et de neurophatologie, Assistance Publique - Hôpitaux de Marseille (APHM)-CHU Marseille, Centre de référence des maladies rares neuromusculaires, INSERM U955, équipe 10, Département de pathologie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratoire de pathologie clinique et expérimentale, Centre Hospitalier Universitaire de Nice (CHU Nice), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de compétences pathologies neuromusculaires [CHU Caen], Thérapie des maladies du muscle strié, 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de physiologie clinique, unité de myologie, CHU Saint-Etienne, Centre de référence des neuropathies amyloïdes et autres neuropathies rares, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Laboratoire de neuropathologie, Service d'Anatomie et Cytologie Pathologique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Département de Pathologie Cellulaire et Tissulaire, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Laboratoire de Neurobiologie et Neuropathologie, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Centre de référence national neuropathies périphériques rares [CHU Limoges], Service d'Anatomomie pathologique, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre de compétence des maladies rares neuromusculaires, Service d'anatomie pathologique, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département d'anatomie et cythologie pathologique, CHU Grenoble-Hôpital Michallon, CHU Grenoble, Service de médecine interne [Nantes], Université de Nantes (UN)-Hôtel-Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de neurologie [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), Service de pathologie et neuropatologie, Hospices Civils de Lyon (HCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Estrogènes, Expression génique et pathologies du Système Nerveux Central - UFC (E2SNC / ESTROGENES), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de pathologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, CHU Bordeaux [Bordeaux], Service des actions médicales, paramédicales et psychologiques, Association Française contre les Myopathies, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse], IMRB - 'Biologie du système neuromusculaire' [Créteil] (U955 Inserm - UPEC), École nationale vétérinaire - Alfort (ENVA)-Institut Mondor de Recherche Biomédicale (IMRB), Centre de référence des maladies rares neuromusculaires [CHU Pitié-Salpétriêre], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre de Reference des Maladies Neuromusculaires - Atlantique Occitanie Caraïbe (CRMN - AOC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)

Subjects
MESH: Muscle, Skeletal, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, MESH: Paraffin Embedding, MESH: Immunohistochemistry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.MHEP.CHI]Life Sciences [q-bio]/Human health and pathology/Surgery, MESH: Peripheral Nerves, MESH: Biopsy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Fixatives, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, MESH: Glutaral, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2010

9. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Author

Antonio, M., Dogan, C., Eymard, B., Puymirat, J., Mathieu, J., Gagnon, C., Attarian, S., Ac Aube-Nathier, Audic, F., Bach, N., Barnerias, C., Al Bedat-Millet, Behin, A., Bellance, R., Rabah BEN YAOU, Bombard, V., Bouhour, F., Boutte, C., Boyer, F., Cances, C., Chabrol, B., Jb Chanson, Chapon, F., Chasseriau, R., Cintas, P., Am Cobo, Colombert, V., Mc Cruz, Jm Cuisset, Deschamps, R., Desguerre, I., Durigneux, J., Duval, F., Espil, C., Fafin, C., Feasson, L., Fradin, M., Furby, A., Goldenberg, A., Grotto, S., Ghorab, K., Guyant-Marechal, L., Heron, D., Isapof, A., Jacquin-Piques, A., Journel, H., Laforet, P., Lagrue, E., Laroche-Raynaud, C., Laugel, V., Lebeau, F., Magot, A., Manel, V., Mayer, M., Mercier, S., Menard, D., Michaud, M., Mc Minot, Rj Morales, Nadaj-Pakleza, A., Jb Noury, Pasquier, L., Pellieux, S., Pereon, Y., Perrier, J., Peudenier, S., Preudhomme, M., Pouget, J., Quijano-Roy, S., Ragot-Mandry, S., Richelme, C., Rivier, F., Sabouraud, P., Sacconi, S., Salort-Campana, E., Sarret, C., Schaeffer, S., Sole, G., Stojkovic, T., Taithe, F., Testard, H., Tiffereau, V., Urtizberea, A., Vanhulle, C., Vial, C., Walther-Louvier, U., Zagnoli, F., Hamroun, D., Bassez, G., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre de Recherches du Service de Santé des Armées (CRSSA), Service de Santé des Armées, Energy Storage and Conversion, Research Institute of Hydro-Québec, Energy Storage and Conversion, Hôpital de la Timone [CHU - APHM] (TIMONE), Department of Medicine, Icahn School of Medicine at Mount Sinai [New York] (MSSM), INVENTAIRE FORESTIER NATIONAL CAEN, Partenaires IRSTEA, Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Centre de référence Caribéen pour les maladies neuromusculaires (CeRCa), Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France]-CHU de la Martinique [Fort de France], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hospices Civils de Lyon (HCL), Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de compétences pathologies neuromusculaires [CHU Caen], Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Paris Descartes - Paris 5 (UPD5), Université d'Angers (UA), Institut de Recherche en Systèmes Electroniques Embarqués (IRSEEM), Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)-Normandie Université (NU)-École Supérieure d’Ingénieurs en Génie Électrique (ESIGELEC)

Subjects
[SDV]Life Sciences [q-bio]
Abstract

International audience; Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries our challenge was (1) to improve standardization and data comparability; (2) to facilitate interoperability between existing RD registries; (3) to limit the amount of incomplete data; (4) to improve data quality. This report describes the innovative concept of the DM-Scope Registry that was developed to achieve these objectives for Myotonic Dystrophy (DM), a prototypical example of highly heterogeneous RD. By the setting up of an integrated platform attractive for practitioners use, we aimed to promote DM epidemiology, clinical research and patients care management simultaneously.Results: The DM-Scope Registry is a result of the collaboration within the French excellence network established by the National plan for RDs. Inclusion criteria is all genetically confirmed DM individuals, independently of disease age of onset. The dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n = 2828, DM2 n = 142), both children (n = 322) and adults (n = 2648), which accounts for > 20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational, basic science studies and patient recruitment for clinical trials.Conclusion: The DM-Scope registry represents the largest collection of standardized data for the DM population. Our concept improved collaboration among health care professionals by providing annual follow-up of quality longitudinal data collection. The combination of clinical features and biomolecular materials provides a comprehensive view of the disease in a given population. DM-Scope registry proves to be a powerful device for promoting both research and medical care that is suitable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of international DM research and for the design of multicentre clinical trials. Finally, this valuable model is applicable to other RDs.

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