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Article History

Received: 5 February 2025

Revised: 10 July 2025

Accepted: 12 July 2025

First Online: 16 August 2025

Declarations

:

: P.S. Kishnani—Consultant/Advisory Board: Amicus Therapeutics, Asklepios Biopharmaceutical, Inc.), JCR Pharmaceuticals, Maze Therapeutics, and Sanofi. Grant/Research Support: Amicus Therapeutics and Sanofi. Other Financial or Material Support: Amicus Therapeutics, Baebies, and Sanofi (Pompe and Gaucher Disease Registry); Asklepios Biopharmaceutical, Inc. (equity options); and Maze Therapeutics (equity which is developing a small molecule therapy for Pompe disease); J. Díaz-Manera—Consultant/Advisory Board: Amicus, Audentes, Lupin, Sanofi, Sarepta, and Spark Therapeutics. Grant/Research Support: Audentes, Boehringer Ingelheim, Sanofi, and Spark Therapeutics. Other Financial or Material Support: Boehringer Ingelheim (receipt of intellectual property rights/patent holder); S. Illarioshkin—Speakers Bureau/Honoraria for non-CME: Ever Pharma, Merz Pharma, and Servier; A.T. van der Ploeg—Consultant/Advisory Board: Amicus, BioMarin, Sanofi, and Spark Therapeutics. Grant/Research Support: Amicus, BioMarin, Sanofi, and Spark Therapeutics; P.R. Clemens—Consultant/Advisory Board: Epirium Bio, Pompe Registry North American Advisory Board, TRiNDS Catalyst Education and Med Learning Group. Grant/Research Support: Amicus, NS Pharma, ReveraGen BioPharma, Sanofi, and Spark Therapeutics; J.W. Day—Consultant/Advisory Board: Affinia Therapeutics, AMO Pharma, Avidity Biosciences, Biogen, Cytokinetics, Epirium Bio, Ionis Pharmaceuticals, Kate Therapeutics, Novartis Gene Therapies, Roche/Genentech Pharmaceuticals, Sarepta Therapeutics, Scholar Rock, Shift Therapeutics, Vertex Pharmaceuticals. Grant/Research Support: AMO Pharma, Audentes, Astellas Gene Therapies, Avidity Biosciences, Biogen, Cure SMA, Cytokinetics, Genentech, Ionis Pharmaceuticals, Muscular Dystrophy Association, Novartis Gene Therapies, Roche Pharmaceuticals, Sanofi, Sarepta Therapeutics, Scholar Rock, SMA Foundation. Patent holder/Royalties: Athena Diagnostics for Genetic Testing; A. Toscano—Member of the European Reference Network for Neuromuscular Disorders (ERN-NMD)—Project ID No 739543; H. Kushlaf—Consultant/Advisory Board: Argenx, Immunovant, Sanofi, Takeda, and UCB. Speakers Bureau/Honoraria for non-CME: Akcea Therapeutics; S. Ladha—Consultant/Advisory Board: Sanofi. Grant/Research Support: Sanofi. Speakers Bureau/Honoraria for non-CME: Sanofi; S. Attarian—Nothing to disclose; G. Carvalho—Nothing to disclose; A. Kostera-Pruszczyk—Consultant/Advisory Board: Argenx, Biogen, Roche, and PTC Therapeutics. Grant/Research Support: Biogen, Kedrion Biopharma, Sanofi, and Takeda. Speakers Bureau/Honoraria for non-CME: Biogen, CSL Behring, Kedrion Biopharma, Novartis, PTC Therapeutics, Roche, Sanofi, and Takeda; S. Erdem-Özdamar—Speakers Bureau/Honoraria for non-CME: Sanofi; O. Goker-Alpan—Consultant/Advisory Board: AVROBIO, Chiesi, Prevail Therapeutics, Sanofi, and Takeda. Grant/Research Support: 4D Molecular Therapeutics, Homology Medicines, and Spark Therapeutics; T. Mozaffar—Consultant/Advisory Board: Alexion Pharmaceuticals, Argenx, Astellas Gene Therapies, Avro Bio, Sanofi, Spark Therapeutics, and Maze Therapeutics; V. Straub—Consultant/Advisory Board: Sanofi. Grant/Research Support: Astellas Gene Therapies and Sanofi. Speakers Bureau/Honoraria for non-CME: Sanofi; M. Roberts—Consultant/Advisory Board: Amicus and Sanofi; K. An Haack—Employee: Sanofi. Stock Ownership/Stock Option: Sanofi; O. Huynh-Ba—Employee: Sanofi. Stock Ownership/Stock Option: Sanofi; S. Tammireddy—Employee: Sanofi. Stock Ownership/Stock Option: Sanofi; M. Periquet—Former Employee: Sanofi (Sanofi employee at the time of manuscript preparation). Stock Ownership/Stock Option: Sanofi; N. Thibault—Employee: Sanofi. Stock Ownership/Stock Option: Sanofi; T. Zhou—Employee: Sanofi. Stock Ownership/Stock Option: Sanofi; M.M. Dimachkie—Consultant/Advisory Board: Abata/Third Rock, Abcuro, Amazentis, Argenx, Catalyst Pharmaceuticals, Cello, Covance/Labcorp, CSL-Behring, EcoR1, Janssen Pharmaceuticals, Kezar Life Sciences, MDA, Momenta, NuFactor, Octapharma, Priovant, Ra Pharma/UCB, Roivant Sciences Inc, Sanofi, Shire Takeda, Scholar Rock, Spark Therapeutics, UCB Biopharma. Grant/Research Support: Alexion, Alnylam Pharmaceuticals, Amicus, BioMarin, Bristol-Myers Squibb, Catalyst Pharmaceuticals, Corbus Grifols, CSL Behring, FDA/OOPD, GlaxoSmithKline, Genentech, Grifols, Kezar Life Sciences, Mitsubishi Tanabe Pharma, MDA, NIH, Novartis, Octapharma, Orphazyme, Ra Pharma/UCB, Sanofi, Sarepta Therapeutics, Shire Takeda, Spark Therapeutics, The Myositis Association, UCB Biopharma/Ra Pharma, Viromed/Helixmith, and TMA. Patent Holder/Royalties: Medlink and UpToDate; B. Schoser—Consultant/Advisory Board: Amicus, Argenx, Astellas, Maze, Sanofi, Pepgen, and Taysha; Grant/Research Support: Amicus and Astellas.