Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy.

The purpose of this study was to quantitate motor performance in 196 genetically confirmed steroid-naïve boys with Duchenne muscular dystrophy (DMD), to evaluate the test-retest reliability of measures of motor performance in young DMD boys, and to assess correlations among the different functional outcomes including timed tests. Boys aged 4-7 years were recruited in the FOR-DMD study, a comparative effectiveness study of different steroid regimens in DMD. Eligible boys had to be able to rise from the floor independently and to perform pulmonary function testing consistently. The boys were evaluated with standardized assessments at the screening and baseline visits at 32 sites in 5 countries (US, UK, Canada, Italy, Germany). Assessments included timed rise from floor, timed 10 m walk/run, six-minute walk distance, North Star Ambulatory Assessment (NSAA) and forced vital capacity (FVC). Mean age at baseline was 5.9 years (range 4.1-8.1 years). Test-retest reliability was high for functional assessments, regardless of time lag between assessments (up to 90 days) and for the majority of age groups. Correlations were strong among the functional measures and timed tests, less so with FVC. Physiotherapy measures are reliable in a young, steroid-naïve population and rise from floor velocity appears to be a sensitive measure of strength in this population.

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Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interests Anna G. Mayhew has participated in SAB meetings for Roche, Regenxbio, Summit, PTC and Biogen and performs Consultancy work (training physiotherapists for trial in DMD) for Roche, Pfizer, PTC, Summit, Sarepta, Lysogene, Italfarmaco, Amicus, Biogen and Avexis. Dionne Moat provides consultancy services for the following companies: ATOM International (covers consultancy services provided to Amicus Therapeutics Pty Ltd, Ascendis Pharma, Biomarin, Catabasis, Faraday, FibroGen, Genethon, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics, QED Therapeutics Ltd, Reveragen, Sarepta Therapeutics), outside the submitted work. Michael McDermott has been supported by a research grant from PTC Therapeutics, has received compensation for consulting from Fulcrum Therapeutics, Inc., and NeuroDerm, Ltd., and has served on Data and Safety Monitoring Boards (DSMBs) for AstraZeneca, Eli Lilly and Company, Catabasis Pharmaceuticals, Inc., Vaccinex, Inc., Cynapsus Therapeutics, Neurocrine Biosciences, Inc., Voyager Therapeutics, Prilenia Therapeutics Development, Ltd., ReveraGen BioPharma, Inc., and NS Pharma, Inc. Michelle Eagle is Managing Director at ATOM International Limited and is contracted with the following companies through ATOM: Amicus, Biomarin, Capricor, Catabasis, Denali, Dyne, Edgewise, Faraday, Fibrogen, Genethon, Italfarmaco, Lysogen, Modis, NSPharma, PTC, Sarepta, Solid, Referagen. Robert Griggs receives research support from the NIH, the Muscular Dystrophy Association, the Parent Project for Muscular Dystrophy, and from Sarepta Biopharma, PTC Therapeutics and Santhera Pharmaceuticals. He serves as a Consultant for Strongbridge and Stealth Pharmaceuticals. He is Chair of a DSMB for Solid Pharmaceuticals. He receives monies for editorial work from Elsevier as an Editor of Cecil Essentials and Cecil Textbook of Medicine. He serves as Chair of the Research Advisory Committee and is a Board Member of the American Brain Foundation. He is on the Executive Committee of the Muscle Study Group, which receives support for its activities from Pharmaceutical companies. Meredith K. James provides consultancy services for the following companies: ATOM International (covers consultancy services provided to Amicus Therapeutics Pty Ltd, Ascendis Pharma, Biomarin, Catabasis, Faraday, FibroGen, Genethon, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics, QED Therapeutics Ltd, Reveragen, Sarepta Therapeutics), outside the submitted work. MKJ has received payment for participation on advisory boards for F. Hoffman La Roche AG, PTC Therapeutics and fee support for PhD studies from the Jain Foundation, outside the submitted work. Robert Muni-Lofra has participated in the advisory board for Biogen and Roche and performs consultancy work (training physiotherapists for trial in DMD and SMA) for Roche, Pfizer, PTC, Summit, Sarepta, Italfarmaco, Amicus, Biogen and Avexis. Lindsey Pallant has performed consultancy work (workshops and training physiotherapists in trials for DMD) for PTC and Sarepta. Katy Eichinger has received personal compensation for serving on advisory boards and/or as a consultant for Ionis, Biogen, Acceleron, Fulcrum, Avidity, PTC and the Myotonic Dystrophy Foundation. Dr. Eichinger has received personal compensation for serving as a speaker from Cure SMA, FSH Society, and Ology. She has received research/grant support from the CMTA. Heather McMurchie has received financial support from PTC and Biogen to access and provide training. Marina DiMarco attended a World Muscle Society conference sponsored by PTC Therapeutics and is a Consultant Physiotherapist presenting at PTC workshops. Lindsay N. Alfano provides consultancy services through ATOM International, Ltd for the following companies: Amicus Therapeutics Pty Ltd, Catabasis, Genethon, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics); reports royalties and other support from Sarepta Therapeutics; royalties for licensed technologies; other support from Novartis Gene Therapies; advisory board for Biogen. Linda P. Lowes provides consultancy services through ATOM International, Ltd for the following companies: Amicus Therapeutics Pty Ltd, Catabasis, Genethon, Italfarmaco, NS Pharma, Pfizer, PTC Therapeutics); reports royalties and other support from Sarepta Therapeutics; royalties for licensed technologies; other support from Novartis Gene Therapies; advisory board for Biogen. Amy Pasternak has participated in advisory boards for Roche, Biogen, Avexis, Scholar Rock and Audentes. Victoria Kern has received an honorarium from the MDA USA for a presentation. Cheryl Scholtes has sat on advisor panels for Biogen Canada and Roche Canada, and has been provided education on behalf of Biogen Canada and Roche Canada. Catherine Lacroix has acted as a consultant and advisory board participant to Biogen. Katherine Kundrat has participated in an advisory board for Biogen. Michela Guglieri is the study chair for a ReveraGen study. MG has research collaborations with ReveraGen and Sarepta. MG is (has been over the past 5 years) PI for clinical trials sponsored by Pfizer, Italfarmaco, Santhera, ReveraGen, Dynacure, Roche, PTC, Summit. MG has been participating in advisory boards for Pfizer, NS Pharma, Dyne (consultancies through Newcastle University). MG has performed consultancy work (speaker) for Sarepta. Declarations of interest: none for remaining authors