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2. Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Albamonte, Emilio, Montes, Jacqueline, Glanzman, Allan M, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, D'Amico, Adele, Catteruccia, Michela, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Salmin, Francesca, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard S., and Mercuri, Eugenio

Published
2024
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3. Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy

Author

Borland, Holly, Moore, Ursula, Dressman, Heather Gordish, Human, Anri, Mayhew, Anna G., Hilsden, Heather, Rufibach, Laura E., Duong, Tina, Maron, Elke, DeWolf, Brittney, Rose, Kristy, Siener, Catherine, Thiele, Simone, Práxedes, Nieves Sanchez-Aguilera, Canal, Aurélie, Holsten, Scott, Sakamoto, Chikako, Pedrosa-Hernández, Irene, Bello, Luca, Alfano, Lindsay N, Lowes, Linda Pax, The Jain COS Consortium, James, Meredith K., and Straub, Volker

Published
2024
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4. Genetic modifiers of upper limb function in Duchenne muscular dystrophy.

Author

Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, and McDonald, Craig

Subjects
CD40, Duchenne muscular dystrophy, Genetic modifiers, SPP1–osteopontin, Upper limb function, Actinin, Cohort Studies, Genotype, Humans, Muscular Dystrophy, Duchenne, Quality of Life, Upper Extremity
Abstract

Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.

Published
2022

5. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M, Montes, Jaqueline, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2024
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6. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Author

Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., and Muntoni, Francesco

Published
2023
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8. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.

Author

Rudnicki, Stacy A, Andrews, Jinsy A, Duong, Tina, Cockroft, Bettina M, Malik, Fady I, Meng, Lisa, Wei, Jenny, Wolff, Andrew A, Genge, Angela, Johnson, Nicholas E, Tesi-Rocha, Carolina, Connolly, Anne M, Darras, Basil T, Felice, Kevin, Finkel, Richard S, Shieh, Perry B, Mah, Jean K, Statland, Jeffrey, Campbell, Craig, Habib, Ali A, Kuntz, Nancy L, Oskoui, Maryam, and Day, John W

Subjects
Muscle, Skeletal, Humans, Muscular Atrophy, Spinal, Troponin I, Drugs, Investigational, Cohort Studies, Double-Blind Method, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Young Adult, Walk Test, Reldesemtiv, pharmacodynamics, pharmacokinetics, six-minute walk test, spinal muscular atrophy clinical trial, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, 6.1 Pharmaceuticals, Neurosciences, Pharmacology and Pharmaceutical Sciences, Public Health and Health Services, Neurology & Neurosurgery
Abstract

This phase 2, double-blind, placebo-controlled, hypothesis-generating study evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients with spinal muscular atrophy (SMA). Patients ≥ 12 years of age with type II, III, or IV SMA were randomized into 2 sequential, ascending reldesemtiv dosing cohorts (cohort 1: 150 mg bid or placebo [2:1]; cohort 2: 450 mg bid or placebo [2:1]). The primary objective was to determine potential pharmacodynamic effects of reldesemtiv on 8 outcome measures in SMA, including 6-minute walk distance (6MWD) and maximum expiratory pressure (MEP). Changes from baseline to weeks 4 and 8 were determined. Pharmacokinetics and safety were also evaluated. Patients were randomized to reldesemtiv 150 mg, 450 mg, or placebo (24, 20, and 26, respectively). The change from baseline in 6MWD was greater for reldesemtiv 450 mg than for placebo at weeks 4 and 8 (least squares [LS] mean difference, 35.6 m [p = 0.0037] and 24.9 m [p = 0.058], respectively). Changes from baseline in MEP at week 8 on reldesemtiv 150 and 450 mg were significantly greater than those on placebo (LS mean differences, 11.7 [p = 0.038] and 13.2 cm H2O [p = 0.03], respectively). For 6MWD and MEP, significant changes from placebo were seen in the highest reldesemtiv peak plasma concentration quartile (Cmax > 3.29 μg/mL; LS mean differences, 43.3 m [p = 0.010] and 28.8 cm H2O [p = 0.0002], respectively). Both dose levels of reldesemtiv were well tolerated. Results suggest reldesemtiv may offer clinical benefit and support evaluation in larger SMA patient populations.

Published
2021

9. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

Author

Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, and Rico, Salvador

Published
2023
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10. The Minimal Clinical Important Difference (MCID) in Annual Rate of Change of Timed Function Tests in Boys with DMD.

Author

Duong, Tina, Canbek, Jennifer, Birkmeier, Marisa, Nelson, Leslie, Siener, Catherine, Fernandez-Fernandez, Alicia, Henricson, Erik, Gordish-Dressman, Heather, and McDonald, Craig

Subjects
Duchenne muscular dystrophy, MCID, time function tests, Child, Disease Progression, Humans, Male, Minimal Clinically Important Difference, Muscular Dystrophy, Duchenne, Prospective Studies, Retrospective Studies
Abstract

BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare x-linked recessive genetic disorder affecting 1 in every 5000-10000 [1, 2]. This disease leads to a variable but progressive sequential pattern of muscle weakness that eventually causes loss of important functional milestones such as the ability to walk. With promising drugs in development to ameliorate the effects of muscle weakness, these treatments must be associated with a clinically meaningful functional change. OBJECTIVE: The objective of this analysis is to determine both distribution, minimal detectable change (MDC), and anchor-based, minimal clinically important difference, (MCID) of 12 month change values in standardized time function tests (TFT) used to monitor disease progression in DMD. METHOD: This is a retrospective analysis of prospectively collected data from a multi-center prospective natural history study with the Cooperative International Neuromuscular Research Group (CINRG). This study calculated MDC and MCID values for 3 commonly used timed function tests typically used to monitor disease progression; supine to stand (STS), 10 meter walk/run (10MWT), and 4 stair climb (4SC). MDC used standard error of measurement (SEM) while MCID measurements used the Vignos scale as an anchor to determine clinical change in functional status. RESULTS: All 3 TFT were significantly important clinical endpoints to detect MDC and MCID changes. MDC and MCID 12 month changes were significant in 10MWT (-0.138, -0.212), Supine to Stand (-0.026, -0.023) and 4 stair climb (-0.034, -0.035) with an effect size greater or close to 0.2. CONCLUSION: The 3 TFT are clinically meaningful endpoints used to establish change in DMD. MCID values were higher than MDC values indicating that an anchor-based approach using Vignos as a clinically meaningful loss of lower extremity abilities is appropriate to assess change in boys with DMD.

Published
2021

11. Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0.

Author

Cicala, Gianpaolo, Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Fanelli, Lavinia, Norcia, Giulia, Forcina, Nicola, Mazzone, Elena, Stanca, Giulia, Ferrante, Roberta, Vento, Alessandra, Ferraroli, Elisabetta, Ricci, Martina, Capasso, Anna, Leone, Daniela, Palermo, Concetta, Berti, Beatrice, Cutrona, Costanza, Mahyew, Anna, Duong, Tina, Goemans, Natalie, Vroom, Elizabeth, and Mercuri, Eugenio

Published
2023
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12. Conference report on contractures in musculoskeletal and neurological conditions.

Author

Nuckolls, Glen, Kinnett, Kathi, Dayanidhi, Sudarshan, Domenighetti, Andrea, Duong, Tina, Hathout, Yetrib, Lawlor, Michael, Lee, Sabrina, Magnusson, S, McNally, Elizabeth, Miller, Natalie, Olwin, Bradley, Raghavan, Preeti, Roberts, Thomas, Rutkove, Seward, Sarwark, John, Senesac, Claudia, Vogel, Leslie, Walter, Glenn, Willcocks, Rebecca, Rymer, William, Lieber, Richard, and McDonald, Craig

Subjects
Duchenne muscular dystrophy, cerebral palsy, contracture, muscle, stroke, Cerebral Palsy, Chicago, Contracture, Education, Humans, Muscular Dystrophy, Duchenne, Musculoskeletal Diseases, Nervous System Diseases, Research Report
Abstract

Limb contractures are debilitating complications associated with various muscle and nervous system disorders. This report summarizes presentations at a conference at the Shirley Ryan AbilityLab in Chicago, Illinois, on April 19-20, 2018, involving researchers and physicians from diverse disciplines who convened to discuss current clinical and preclinical understanding of contractures in Duchenne muscular dystrophy, stroke, cerebral palsy, and other conditions. Presenters described changes in muscle architecture, activation, extracellular matrix, satellite cells, and muscle fiber sarcomeric structure that accompany or predispose muscles to contracture. Participants identified ongoing and future research directions that may lead to understanding of the intersecting factors that trigger contractures. These include additional studies of changes in muscle, tendon, joint, and neuronal tissues during contracture development with imaging, molecular, and physiologic approaches. Participants identified the requirement for improved biomarkers and outcome measures to identify patients likely to develop contractures and to accurately measure efficacy of treatments currently available and under development.

Published
2020

14. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial

Author

Thornton, Charles A, Moxley, Richard Thomas, III, Eichinger, Katy, Heatwole, Chad, Mignon, Laurence, Arnold, W David, Ashizawa, Tetsuo, Day, John W, Dent, Gersham, Tanner, Matthew K, Duong, Tina, Greene, Ericka P, Herbelin, Laura, Johnson, Nicholas E, King, Wendy, Kissel, John T, Leung, Doris G, Lott, Donovan J, Norris, Daniel A, Pucillo, Evan M, Schell, Wendy, Statland, Jeffrey M, Stinson, Nikia, Subramony, Sub H, Xia, Shuting, Bishop, Kathie M, and Bennett, C Frank

Published
2023
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15. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial

Author

Mc Govern, Eavan, Yazbeck, Elise, Barbier, Magali, Luton, Marie-Pierre, Pousset, Françoise, Hogrel, Jean-Yves, Adanyeguh, Isaac, Then Bergh, Florian, Bergner, Caroline, Unterlauft, Astrid, Roicke, Hannes, Hoffmann, Karl-Titus, Scherlach, Cordula, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Fenu, Silvia, Mauro, Elena, Murphy, Elaine, Krishna, Gauri, Beyene, Tiggy, Sierra, Alba, Quiñoa, Sara, Belen Canovas, Anna, Grosz, Zoltan, Györgyi, Báthori, van de Stadt, S.I., Huffnagel, I.C., van Ballegoij, W.J.C., Voermans, M.M.C., Seyedsadjadi, Reza, Corre, Camille, Godbole, Neha, Grant, Natalie Rose, Brito Pires, Claudia Maria, Trovato, Melissa, Yeh, Nancy, Goodman, Jordan, Keller, Jennifer, Joseph, Chris, Van Haren, Keith, Sakamuri, Sarada, Duong, Tina, Perrone, Lila, Tran, Stephanie, Dunaway Young, Sally, Hashmi, Syed, Köhler, Wolfgang, Engelen, Marc, Eichler, Florian, Lachmann, Robin, Fatemi, Ali, Sampson, Jacinda, Salsano, Ettore, Gamez, Josep, Molnar, Maria Judit, Pascual, Sílvia, Rovira, Maria, Vilà, Anna, Pina, Guillem, Martín-Ugarte, Itziar, Mantilla, Adriana, Pizcueta, Pilar, Rodríguez-Pascau, Laura, Traver, Estefania, Vilalta, Anna, Pascual, María, Martinell, Marc, Meya, Uwe, and Mochel, Fanny

Published
2023
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16. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Volpe, Joseph J, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Gerber, Marianne, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Joniau, Inge, Accou, Geraldine, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Fornazieri Darcie, Ana Letícia, Machado, Cleide, Kiyoko Oyamada, Maria, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Hu, Chaoping, Zhu, Xiaomei, Qian, Chen, Shen, Li, Li, Hui, Shi, Yiyun, Zhou, Shuizhen, Xiao, Ying, Zhou, Zhenxuan, Wang, Sujuan, Sang, Tian, Wei, Cuijie, Dong, Hui, Cao, Yiwen, Wen, Jing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Tomas, Josipa, Boespflug-Tanguy, Odile, De Lucia, Silvana, Seferian, Andrea, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Grange, Allison, Trang Nguyen, Diem, Milascevic, Darko, Tachibana, Shotaro, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pedemonte, Marina, Priolo, Enrico, Sposetti, Lorenza, Comi, Giacomo Pietro, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Leone, Daniela, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Takeshima, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Gomi, Fumi, Morimatsu, Takanobu, Furukawa, Toru, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Artemyeva, Svetlana, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Litvinova, Elena, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Sari, Seher, Bilgin, Neslihan, Karaduman, Aynur Ayse, Sarikaya, Fatma Gokcem Yildiz, Graham, Robert J, Ghosh, Partha, Casavant, David, Levine, Alexis, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Baglieri, Anna Maria, Dias, Courtney, Maczek, Elizabeth, Pasternak, Amy, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Published
2022
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18. Long‐term natural history in type II and III spinal muscular atrophy: a 4‐year international study on the Hammersmith Functional Motor Scale Expanded.

Author

Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M., Montes, Jacqueline, Pasternak, Amy, De Sanctis, Roberto, Dunaway Young, Sally, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Catteruccia, Michela, and Brolatti, Noemi

Subjects
SPINAL muscular atrophy, NATURAL history, GENETIC disorders, GENETIC mutation, FUNCTIONAL status
Abstract

Background and purpose: Spinal muscular atrophy (SMA) is a genetic disorder caused by SMN1 gene mutations. Although studies on available disease‐modifying treatments have reported their efficacy and safety, long‐term natural history data are lacking for comparison. The aim of this prospective study was to report 4‐year changes on the Hammersmith Functional Motor Scale Expanded (HFMSE) in type II and III SMA in relation to several variables such as age, functional status and SMN2 copy number. Methods: The study involves retrospective analysis of prospectively collected data from international datasets (Belgium, Italy, Spain, USA, UK). HFMSE longitudinal changes were analyzed using linear mixed effect models, examining annualized HFMSE change and its association with variables such as age at baseline, sex, motor function, SMN2 copy number. Results: In SMA type II (n = 226), the 4‐year mean change was −2.20 points. The largest mean changes were observed in sitters aged 5–14 years and the lowest in those who lost the ability to sit unsupported. In SMA type III (n = 162), the 4‐year mean change was −2.75 points. The largest mean changes were in those aged 7–15 years, whilst the lowest were in those below 7 and in the SMA type IIIa subgroup over 15. Age and score at baseline were predictive of 4‐year changes. Conclusions: Our findings provide natural history reference data for comparison with long‐term follow‐up of clinical trials or real‐world data, highlighting the need to define patterns of changes in smaller SMA subgroups instead of reporting mean changes across an entire SMA cohort. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
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20. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Author

Coratti, Giorgia, Carmela Pera, Maria, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, de Sanctis, Roberto, Stacy Mazzone, Elena, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico, Day, John, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S, and Mercuri, Eugenio

Published
2022
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21. A multinational study on motor function in early-onset FSHD.

Author

Duong, Tina, Carroll, Kate, de Valle, Katy, Carty, Cara, Morgenroth, Lauren, Guglieri, Michela, Ryan, Monique, Clemens, Paula, Thangarajh, Mathula, Webster, Richard, Smith, Edward, Connolly, Anne, Mah, Jean, Feng, Jia, Karachunski, Peter, Tulinius, Mar, Harper, Amy, Cnaan, Avital, Chen, Yi-Wen, McDonald, Craig, and Jacobs, Marni

Subjects
Age of Onset, Cross-Sectional Studies, DNA Repeat Expansion, Female, Humans, Male, Motor Activity, Muscle Weakness, Muscular Dystrophy, Facioscapulohumeral, Range of Motion, Articular, Severity of Illness Index, Young Adult
Abstract

OBJECTIVES: To investigate motor function associations with age, sex, and D4Z4 repeats among participants with early-onset facioscapulohumeral muscular dystrophy (FSHD) type 1 as defined by weakness onset before 10 years of age. METHODS: We collected standardized motor assessments, including manual muscle testing (MMT), quantitative muscle testing, functional motor evaluations, and clinical severity scores (CSSs), at 12 Cooperative International Neuromuscular Research Group centers. To measure associations, we used linear regression models adjusted for sex, evaluation age, age at onset of weakness, and D4Z4 repeats. RESULTS: Among 52 participants (60% female, mean age 22.9 ± 14.7 years), weakness was most pronounced in the shoulder and abdominal musculature. Older enrollment age was associated with greater CSSs (p = 0.003). When adjusted for enrollment age, sex, and D4Z4 repeats, younger age at onset of facial weakness was associated with greater CSSs, slower velocities in timed function tests, and lower MMT scores (p < 0.05). CONCLUSION: Significant clinical variability was observed in early-onset FSHD. Earlier age at onset of facial weakness was associated with greater disease severity. Longitudinal assessments are needed to determine the rate of disease progression in this population.

Published
2018

22. Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

Author

Lilien, Charlotte, primary, Vrscaj, Eva, additional, Thapaliya, Gita, additional, Deconinck, Nicolas, additional, De Waele, Liesbeth, additional, Duong, Tina, additional, Haberlová, Jana, additional, Kumhera, Markéta, additional, Peirens, Geertrui, additional, Szabo, Lena, additional, Tahon, Valentine, additional, Tang, Whitney J., additional, Benmhammed, Noor, additional, Médard, Laurie, additional, and Servais, Laurent, additional

Published
2024
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23. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

McGrattan, Katlyn, primary, Cerchiari, Antonella, additional, Conway, Eleanor, additional, Berti, Beatrice, additional, Finkel, Richard, additional, Muntoni, Francesco, additional, Mercuri, Eugenio, additional, Fanelli, Lavinia, additional, Coratti, Giorgia, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Trucco, Federica, additional, Latini, Sofia, additional, Bertini, Enrico, additional, d'Amico, Adele, additional, Doglio, Luca, additional, Stimpson, Georgia, additional, Baranello, Giovanni, additional, Scoto, Mariacristina, additional, Rohwer, Annemarie, additional, Edel, Lisa, additional, Lofra, Robert Muni, additional, Bettolo, Chiara Marini, additional, Young, Sally Dunaway, additional, Day, John, additional, Duong, Tina, additional, Darras, Basil, additional, Pasternak, Amy, additional, Montes, Jacqueline, additional, Rodriguez-Torres, Ralph, additional, Chiriboga, Claudia A., additional, Hirano, Michio, additional, Civitello, Matthew, additional, Cunningham, Zarazuela Zolkipli, additional, Brandsema, John, additional, Mayer, Hank, additional, Glanzmann, Allan, additional, Karagiannis, Joannis, additional, Baldinetti, Francesca, additional, Khader, Leila, additional, Costa, Patrizia, additional, Lovato, Valeria, additional, and Rastelletti, Irene, additional

Published
2024
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24. Delphi Consensus Panel on Assessing Clinically Meaningful Treatment Outcomes in Adults Living with Spinal Muscular Atrophy (SMA) (P2-11.007)

Author

Sully, Kate, primary, Chiriboga, Claudia, additional, Duong, Tina, additional, Erbas, Yasemin, additional, Glascock, Jacqueline, additional, Gusset, Nicole, additional, Muni-Lofra, Robert, additional, O’Connell, Colleen, additional, Vázquez-Costa, Juan F., additional, Walter, Maggie C., additional, Guittari, Carol Jean, additional, Cochrane, James, additional, Townson, Louisa D., additional, Kufakwaro, Jason, additional, Marciniak, Anne, additional, Riley, Danielle, additional, and Nam, Julian, additional

Published
2024
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25. Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy

Author

Vishwanathan, V., Chidambaranathan, S., Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, TesiRocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorini, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M., Landfeldt, Erik, Iff, Joel, and Henricson, Erik

Published
2021
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27. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

Author

Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2021
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28. Patients’ Perceptions of Nusinersen Effects According to Their Responder Status

Author

Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney W.J., Benmhammed, Noor, Médard, Laurie, Servais, Laurent, Lilien, Charlotte, Vrscaj, Eva, Thapaliya, Gita, Deconinck, Nicolas, De Waele, Liesbeth, Duong, Tina, Haberlová, Jana, Kumhera, Markéta, Peirens, Geertrui, Szabo, Lena, Tahon, Valentine, Tang, Whitney W.J., Benmhammed, Noor, Médard, Laurie, and Servais, Laurent

Abstract

Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I–III patients with a median age of 11.2 (0.39–57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e. those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients’ caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients’ and patients’ caregivers’ experience of the effect of nusinersen treatment in SMA., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2024

29. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Author

Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, and Day, John W.

Published
2021
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30. Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.

Author

Crawford, Thomas O., Day, John W., De Vivo, Darryl C., Krueger, Jena M., Mercuri, Eugenio, Nascimento, Andres, Pasternak, Amy, Mazzone, Elena Stacy, Duong, Tina, Guochen Song, Marantz, Jing L., Baver, Scott, Dongzi Yu, Lan Liu, and Darras, Basil T.

Subjects
SPINAL muscular atrophy, COMPUTER adaptive testing, RESPIRATORY infections, COVID-19, FATIGUE (Physiology)
Abstract

Background and purpose: At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal muscular atrophy (SMA) and with a favorable safety profile. This manuscript reports the extended efficacy and safety in the nonambulatory group of the TOPAZ study at 36 months. Methods: Patients who completed the primary study (NCT03921528) could enroll in an open-label extension, during which patients received apitegromab 20 mg/kg by intravenous infusion every 4 weeks. Patients were assessed periodically via the Hammersmith Functional Motor Scale-Expanded (HFMSE), Revised Upper Limb Module (RULM), World Health Organization (WHO) motor development milestones, Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) Daily Activities and Mobility domains, and Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue questionnaire. Results: Of the 58 patients enrolled in TOPAZ, 35 were nonambulatory (mean age 7.3 years). The mean change at 36 months in HFMSE score from baseline was +4.0 (standard deviation [SD]: 7.54), and + 2.4 (3.24) for RULM score (excluding n = 7 after scoliosis surgery). Caregiver-reported outcomes (PEDI-CAT and PROMIS Fatigue) showed improvements from baseline over 36 months. In addition, most patients (28/32) improved or maintained WHO motor milestones achieved at baseline. The most frequently reported treatment-emergent adverse events were pyrexia (48.6%), nasopharyngitis (45.7%), COVID-19 infection (40.0%), vomiting (40.0%), and upper respiratory tract infection (31.4%). Conclusion: The benefit of apitegromab treatment observed at 12 months was sustained at 36 months with no new safety findings. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Author

Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, and Sframeli, Maria

Subjects
SPINAL muscular atrophy, NEUROMUSCULAR diseases, RECEIVER operating characteristic curves, MEASUREMENT errors
Abstract

Background and purpose: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort. Methods: The study employed two distinct methods. MDC was calculated using distribution‐based approaches to consider standard error of measurement and effect size change in a population of 321 patients (176 SMA II and 145 SMA III), allowing for stratification based on age and function. MCID was assessed using anchor‐based methods (receiver operating characteristic [ROC] curve analysis and standard error) on 76 patients (52 SMA II and 24 SMA III) for whom the 12‐month HFMSE could be anchored to a caregiver‐reported clinical perception questionnaire. Results: With both approaches, SMA type II and type III patients had different profiles. The MCID, using ROC analysis, identified optimal cutoff points of −2 for type II and −4 for type III patients, whereas using the standard error we found the optimal cutoff points to be 1.5 for improvement and −3.2 for deterioration. Furthermore, distribution‐based methods uncovered varying values across age and functional status subgroups within each SMA type. Conclusions: These results emphasize that the interpretation of a single MCID or MDC value obtained in large cohorts with different functional status needs to be made with caution, especially when these may be used to assess possible responses to new therapies. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Targeted Stimulation of the Sensory Afferents Improves Motoneuron Function in Humans With Spinal Muscular Atrophy

Author

Capogrosso, Marco, primary, Prat-Ortega, Genis, additional, Ensel, Scott, additional, Donadio, Serena, additional, Borda, Luigi, additional, Boos, Amy, additional, Yadav, Prakarsh, additional, Verma, Nikhil, additional, Ho, Jonathan, additional, Frazier-Kim, Sarah, additional, Fields, Daryl, additional, Fisher, Lee, additional, Weber, Douglas, additional, Duong, Tina, additional, Weinstein, Steve, additional, Eliasson, Mikael, additional, Montes, Jacqueline, additional, Chen, Karen, additional, Clemens, Paula, additional, Gerzsten, Peter, additional, Mentis, George, additional, Pirondini, Elvira, additional, and Friedlander, Robert, additional

Published
2024
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34. Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study

Author

Bello, Luca, Gordish-Dressman, Heather, Morgenroth, Lauren P, Henricson, Erik K, Duong, Tina, Hoffman, Eric P, Cnaan, Avital, and McDonald, Craig M

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Clinical Trials and Supportive Activities, Muscular Dystrophy, Duchenne/ Becker Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Clinical Research, Pediatric, Brain Disorders, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adolescent, Adult, Anti-Inflammatory Agents, Child, Child, Preschool, Follow-Up Studies, Glucocorticoids, Humans, Internationality, Male, Muscular Dystrophy, Duchenne, Prednisolone, Prednisone, Pregnenediones, Young Adult, CINRG Investigators, Clinical Sciences, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveWe aimed to perform an observational study of age at loss of independent ambulation (LoA) and side-effect profiles associated with different glucocorticoid corticosteroid (GC) regimens in Duchenne muscular dystrophy (DMD).MethodsWe studied 340 participants in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). LoA was defined as continuous wheelchair use. Effects of prednisone or prednisolone (PRED)/deflazacort (DFZ), administration frequency, and dose were analyzed by time-varying Cox regression. Side-effect frequencies were compared using χ(2) test.ResultsParticipants treated ≥1 year while ambulatory (n = 252/340) showed a 3-year median delay in LoA (p < 0.001). Fourteen different regimens were observed. Nondaily treatment was common for PRED (37%) and rare for DFZ (3%). DFZ was associated with later LoA than PRED (hazard ratio 0.294 ± 0.053 vs 0.490 ± 0.08, p = 0.003; 2-year difference in median LoA with daily administration, p < 0.001). Average dose was lower for daily PRED (0.56 mg/kg/d, 75% of recommended) than daily DFZ (0.75 mg/kg/d, 83% of recommended, p < 0.001). DFZ showed higher frequencies of growth delay (p < 0.001), cushingoid appearance (p = 0.002), and cataracts (p < 0.001), but not weight gain.ConclusionsUse of DFZ was associated with later LoA and increased frequency of side effects. Differences in standards of care and dosing complicate interpretation of this finding, but stratification by PRED/DFZ might be considered in clinical trials. This study emphasizes the necessity of a randomized, blinded trial of GC regimens in DMD.Classification of evidenceThis study provides Class IV evidence that GCs are effective in delaying LoA in patients with DMD.

Published
2015

35. Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study

Author

Bello, Luca, Kesari, Akanchha, Gordish‐Dressman, Heather, Cnaan, Avital, Morgenroth, Lauren P, Punetha, Jaya, Duong, Tina, Henricson, Erik K, Pegoraro, Elena, McDonald, Craig M, Hoffman, Eric P, and Investigators, on behalf of the Cooperative International Neuromuscular Research Group

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Muscular Dystrophy, Human Genome, Rare Diseases, Clinical Research, Brain Disorders, Clinical Trials and Supportive Activities, Adolescent, Adult, Child, Child, Preschool, Cohort Studies, Ethnicity, Humans, International Cooperation, Latent TGF-beta Binding Proteins, Male, Mobility Limitation, Muscular Dystrophy, Duchenne, Osteopontin, Walking, Young Adult, Cooperative International Neuromuscular Research Group Investigators, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveWe studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.MethodsWe genotyped SPP1 rs28357094 and LTBP4 haplotype in 283 of 340 participants in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). Median ages at LoA were compared by Kaplan-Meier analysis and log-rank test. We controlled polymorphism analyses for concurrent effects of glucocorticoid corticosteroid (GC) treatment (time-varying Cox regression) and for population stratification (multidimensional scaling of genome-wide markers).ResultsHispanic and South Asian participants (n = 18, 41) lost ambulation 2.7 and 2 years earlier than Caucasian subjects (p = 0.003,

Published
2015

36. Correction to: Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

Author

Duong, Tina, Braid, Jessica, Staunton, Hannah, Barriere, Aurelie, Petridis, Fani, Reithinger, Johannes, Cruz, Rosangel, Jarecki, Jill, De Lemus, Mencia, Gusset, Nicole, Broekgaarden, Ria, Randhawa, Sharan, Flynn, Jessica, Arbuckle, Rob, Reif, Sonia, Yang, Lida, De Martini, Angela, and Vuillerot, Carole

Published
2021
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37. Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

Author

Duong, Tina, Braid, Jessica, Staunton, Hannah, Barriere, Aurelie, Petridis, Fani, Reithinger, Johannes, Cruz, Rosangel, Jarecki, Jill, De Lemus, Mencia, Gusset, Nicole, Broekgaarden, Ria, Randhawa, Sharan, Flynn, Jessica, Arbuckle, Rob, Reif, Sonia, Yang, Lida, De Martini, Angela, and Vuillerot, Carole

Published
2021
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38. Development of an academic disease registry for spinal muscular atrophy

Author

De Vivo, Darryl C, Darras, Basil T, Day, John, Montes, Jacqueline, Glanzmann, Allan, Pasternack, Amy, Salazar, Rachel, Dunaway Young, Sally, Duong, Tina, Pane, Marika, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Frongia, Annalia, Antonaci, Laura, De Sanctis, Roberto, Messina, Sonia, Bertini, Enrico, Vita, Giuseppe, Bruno, Claudio, Sframeli, Maria, Sansone, Valeria A, Albamonte, Emilio, D'Amico, Adele, Mercuri, Eugenio, Finkel, Richard, Scoto, MariaCristina, Hall, Susan, Eaton, Susan, Rashid, Aisha, Balashkina, Julia, Coratti, Giorgia, Pera, Maria Carmela, Samsuddin, Salma, Civitello, Matthew, and Muntoni, Francesco

Published
2019
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39. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

Author

Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O'Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A., D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, and Mazzone, Elena

Published
2024
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40. Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)

Author

Tang, Whitney J., primary, Gu, Bo, additional, Montalvo, Samuel, additional, Dunaway Young, Sally, additional, Parker, Dana M., additional, de Monts, Constance, additional, Ataide, Paxton, additional, Ni Ghiollagain, Noirin, additional, Wheeler, Matthew T., additional, Tesi Rocha, Carolina, additional, Christle, Jeffrey W., additional, He, Zihuai, additional, Day, John W., additional, and Duong, Tina, additional

Published
2023
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41. Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy

Author

Beaudin, Marie, primary, Kamali, Tahereh, additional, Tang, Whitney, additional, Hagerman, Katharine A., additional, Dunaway Young, Sally, additional, Ghiglieri, Lisa, additional, Parker, Dana M., additional, Lehallier, Benoit, additional, Tesi-Rocha, Carolina, additional, Sampson, Jacinda B., additional, Duong, Tina, additional, and Day, John W., additional

Published
2023
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42. Nusinersen Treatment in Adults with Spinal Muscular Atrophy

Author

Duong, Tina, Wolford, Connie, McDermott, Michael P., Macpherson, Chelsea E., Pasternak, Amy, Glanzman, Allan M., Martens, William B., Kichula, Elizabeth, Darras, Basil T., De Vivo, Darryl C., Zolkipli-Cunningham, Zarazuela, Finkel, Richard S., Zeineh, Michael, Wintermark, Max, Sampson, Jacinda, Hagerman, Katharine A., Young, Sally Dunaway, and Day, John W.

Published
2021
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43. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author

Young, Sally Dunaway, Mcgrattan, Katlyn, Johnson, Emily, van der Heul, Marise, Duong, Tina, Bakke, Merete, Werlauff, Ulla, Pasternak, Amy, Cattaneo, Camilla, Hoffman, Katie, Fanelli, Lavinia, Breaks, Anne, Allison, Kristen, Baranello, Giovanni, Finkel, Richard, Coratti, Giorgia, and Lofra, Robert Muni

Subjects
SPINAL MUSCULAR ATROPHY, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Neurology, Neurology (clinical)
Abstract

Background: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits in SMA impedes the ability to monitor function, facilitate intervention, or detect treatment response. Objective: To fill this void, an international multidisciplinary team gathered to develop an agreed upon consensus-derived assessment of bulbar function in SMA for inter-professional administration to enhance our ability to monitor disease progression, support clinical management, and evaluate treatment effects. Methods: Fifty-six international clinicians experienced in SMA were invited and engaged using the Delphi method over multiple rounds of web-based surveys to establish consensus. Results: Serial virtual meetings occurred with 42 clinicians (21 speech and language therapists, 11 physical therapists, 5 neurologists, 4 occupational therapists, and 1 dentist). Seventy-two validated assessments of bulbar function were identified for potential relevance to individuals with SMA (32 accessible objective, 11 inaccessible objective, 29 patient-reported outcomes). Delphi survey rounds (n = 11, 15, 15) achieved consensus on individual items with relevance and wording discussed. Key aspects of bulbar function identified included: oral intake status, oral facial structure and motor strength, swallowing physiology, voice & speech, and fatigability. Conclusions: Multidisciplinary clinicians with expertise in bulbar function and SMA used Delphi methodology to reach consensus on assessments/items considered relevant for SMA across all age groups. Future steps include piloting the new scale moving towards validation/reliability. This work supports the advancement of assessing bulbar function in children and adults with SMA by a variety of professionals.

Published
2023
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44. Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

Author

Vishwanathan, Vijay, Chidambaranathan, S, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorin, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M., McDonald, Craig M, Henricson, Erik K, Abresch, Richard T, Joyce, Nanette C, Hu, Fengming, Clemens, Paula R, Hoffman, Eric P, and Gordish-Dressman, Heather

Published
2018
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45. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author

Dunaway Young, Sally, primary, McGrattan, Katlyn, additional, Johnson, Emily, additional, van der Heul, Marise, additional, Duong, Tina, additional, Bakke, Merete, additional, Werlauff, Ulla, additional, Pasternak, Amy, additional, Cattaneo, Camilla, additional, Hoffman, Katie, additional, Fanelli, Lavinia, additional, Breaks, Anne, additional, Allison, Kristen, additional, Baranello, Giovanni, additional, Finkel, Richard, additional, Coratti, Giorgia, additional, and Lofra, Robert Muni, additional

Published
2023
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48. Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Author

Jain, Minal S., Meilleur, Katherine, Kim, Eunhee, Norato, Gina, Waite, Melissa, Nelson, Leslie, McGuire, Michelle, Duong, Tina, Keller, Katherine, Lott, Donovan J., Glanzman, Allan, Rose, Kristy, Main, Marion, Fiorini, Courtney, Chrismer, Irene, Linton, Melody, Punjabi, Monal, Elliott, Jeffrey, Tounkara, Fatoumata, Vasavada, Ruhi, Logaraj, Ranjani, Winkert, Jocelyn, Donkervoort, Sandra, Leach, Meganne, Dastgir, Jahannaz, Hynan, Linda, Nichols, Carmel, Hartnett, Elizabeth, Averion, Gilberto M., Collins, James C., Kim, Eunice S., Kokkinis, Angela, Schindler, Alice, Zukosky, Kristen, Fee, Robert, Hinton, Veronica, Mohassel, Payam, Bharucha-Goebel, Diana, Vuillerot, Carole, McGraw, Peter, Barton, Mark, Fontana, Joseph, Rutkowski, Anne, Foley, A. Reghan, and Bönnemann, Carsten

Published
2019
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49. JEWELFISH: 24-month Safety, Pharmacodynamic and Exploratory Efficacy Data in Non-Treatment-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (P7-9.004)

Author

Chiriboga, Claudia, primary, Bruno, Claudio, additional, Duong, Tina, additional, Fischer, Dirk, additional, Kirschner, Janbernd, additional, Scoto, Mariacristina, additional, Mercuri, Eugenio, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Carruthers, Imogen, additional, Martin, Carmen, additional, Gidaro, Teresa, additional, and Muntoni, Francesco, additional

Published
2023
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50. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author

Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in the RHS score up to two years in paediatric SMA 2 and 3 participants and contextualise it to the Hammersmith Functional Motor Scale-Expanded (HFMSE). These change scores were considered by SMA type, motor function, and baseline RHS score. We consider a new transitional group, spanning crawlers, standers, and walkers-with-assistance, and analyse that alongside non-sitters, sitters, and walkers. The transitional group exhibit the most definitive change score trend, with an average 1-year decline of 3 points. In the weakest patients, we are most able to detect positive change in the RHS in the under-5 age group, whereas in the stronger patients, we are most able to detect decline in the RHS in the 8-13 age group. The RHS has a reduced floor effect compared to the HFMSE, although we show that the RHS should be used in conjunction with the RULM for participants scoring less than 20 points on the RHS. The timed items in the RHS have high between-participant variability, so participants with the same RHS total can be differentiated by their timed test items.

Published
2023

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