Published

Life Sciences

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Published on - Neuromuscular Disorders

Authors: Rémi Pierre Marie Barrois, Christine Barnerias, Elodie Deladrière, V. Leloup-Germa, Brian Tervil, Frédérique Audic, Christophe Boulay, Claude Cances, Pascal Cintas, Jean Baptiste Davion, Caroline Espil-Taris, Véronique Manel, Yann Pereon, Julie Piarroux, Susana Quijano Roy, Carole Vuillerot, Ulrike Walther-Louvier, Isabelle Desguerre, Cyril Gitiaux

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Spinal muscular atrophy 1 (SMA1) is a severe early genetic disease with degeneration of motor neurons. Motor development is still suboptimal after gene replacement therapy in symptomatic patients. In this study, compound muscle action potential (CMAP) amplitudes were explored as predictors of motor recovery after gene therapy. Thirteen symptomatic SMA1 patients were prospectively included at the Necker Enfants Malades Hospital, Paris, France (Cohort 1) and 12 at the other pediatric neuromuscular reference centers of the French Filnemus network (Cohort 2). In Cohort 1, median CMAP amplitudes showed the best improvement between baseline and the 12 months visit compared to the other tested nerves (ulnar, fibular and tibial). High median CMAP amplitudes at baseline was associated with unaided sitting achievement at M6 (AUC 90%). None of the patients with CHOPINTEND at M0