How to Best Measure Disease Progression in Adult Spinal Muscular Atrophy Patients: A Clinical and Neurophysiological Study
da Graça FF, Iwabe C, Nucci A, de Rezende TJR, França MC Jr.
Muscle Nerve 2026 Feb 2. doi: 10.1002/mus.70169
This study aimed to identify the most sensitive clinical, patient-reported, and neurophysiological measures to detect short-term disease progression in untreated adult SMA patients. Amongst every clinician-reported outcomes (MFM, HFMSE, RULM) and patient-reported outcomes (MFIS, CMAP, MUNIX), the MFM was the most sensitive to short-term progression and most closely aligned with neurophysiological markers, supporting its use as primary outcome in clinical trials involving adult SMA patients.
Articles in scientific journal
Analysis of Different Device Interactions in a Virtual Reality Task in Individuals With Duchenne Muscular Dystrophy-A Randomized Controlled Trial
de Freitas BL, da Silva TD, Crocetta TB, Massetti T, de Araújo LV, Coe S, Dawes H, Caromano FA, Monteiro CBM. Front Neurol. 2019 Jan 29;10:24. The aim of the study was to compare performance of patients with Duchenne Muscular Dystrophy to perform a virtual task using...
Longitudinal reliability of outcome measures in patients with Duchenne muscular dystrophy.
Nagy S, Schädelin S, Hafner P, Bonati U, Scherrer D, Ebi S, Schmidt S, Orsini AL, Bieri O, Fischer D. Muscle Nerve. 2020. 61(1), 63-68. In this retrospective study, the longitudinal reliability of clinical and radiological endpoints in 29 ambulant patients with DMD...
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L,...
Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial
Hafner P, Bonati U, Klein A, Rubino D, Gocheva V, Schmidt S, Schroeder J, Bernert G, Laugel V, Steinlin M, Capone A, Gloor M, Bieri O, Hemkens LG, Speich B, Zumbrunn T, Gueven N, Fischer D. JAMA Netw Open. 2019. 2;2(10):e1914171. Results of a single-center randomized...
Tamoxifen in Duchenne muscular dystrophy (TAMDMD): study protocol for a multicenter, randomized, placebo-controlled, double-blind phase 3 trial.
Nagy S, Hafner P, Schmidt S, Rubino-Nacht D, Schädelin S, Bieri O, Fischer D. Trials. 2019. 20(1), 637. Protocol of a multicenter, randomized, double-blind, placebo-controlled phase III trial study aiming to demonstrate safety and efficacy of tamoxifen over placebo in...
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping
Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR. Neurology. 2019. 93 (16), e1535-e1542. Results of a cohort study performed at the...