Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy

• Published in: Pediatric pulmonology Vol. 54; no. 2; pp. 179 - 185
• Main Authors: Al‐Zaidy, Samiah, Pickard, A. Simon, Kotha, Kavitha, Alfano, Lindsay N., Lowes, Linda, Paul, Grace, Church, Kathleen, Lehman, Kelly, Sproule, Douglas M., Dabbous, Omar, Maru, Benit, Berry, Katherine, Arnold, W. David, Kissel, John T., Mendell, Jerry R., Shell, Richard
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.02.2019; John Wiley and Sons Inc
• Subjects: AVXS‐101; Child, Preschool; gene replacement; gene therapy; Genetic Therapy; health outcomes; Hospitalization; Humans; Infant; Infant, Newborn; Mutation; Neuromuscular diseases; Original; Original : Pcd, Pig, Nehi, Child, and Rare Diseases; quality of life; SMA1; Spinal Muscular Atrophies of Childhood - genetics; Spinal Muscular Atrophies of Childhood - therapy; spinal muscular atrophy; Survival of Motor Neuron 1 Protein - genetics; Treatment Outcome; AVXS-101; health outcomes; gene replacement; gene therapy; spinal muscular atrophy; SMA1; quality of life

Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by 13.6 months. This study assessed the health outcomes of SMA1 infants treated with AVXS‐101 gene replacement therapy. Methods Twelve genetically con...