Megan A Waldrop1,2,3, Stephen J Kolb4,5. 1. Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA. 2. Department of Pediatrics, The Ohio State University Wexner Medical Center, Columbus, OH, USA. 3. Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. 4. Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Stephen.Kolb@osumc.edu. 5. Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Stephen.Kolb@osumc.edu.
Abstract
PURPOSE OF REVIEW: In this review, we discuss the clinical and genetic features of 5q spinal muscular atrophy and highlight approved and upcoming therapies. RECENT FINDINGS: We emphasize that multidisciplinary care has been a key component of the improved quality and length of life seen in these individuals in the past decade. We discuss the evidence leading to the approval of nusinersen and the evidence leading to the anticipated approval of onasemnogene abeparvovec-xioi. Additional clinical therapies that are on the horizon are discussed and the importance of continued multidisciplinary care even after treatment is emphasized. The pursuit of therapies for spinal muscular atrophy is becoming a success story and continued development of biomarkers will allow for more informed therapeutic decision making and eventual cost-effective utilization of available therapies.
PURPOSE OF REVIEW: In this review, we discuss the clinical and genetic features of 5q spinal muscular atrophy and highlight approved and upcoming therapies. RECENT FINDINGS: We emphasize that multidisciplinary care has been a key component of the improved quality and length of life seen in these individuals in the past decade. We discuss the evidence leading to the approval of nusinersen and the evidence leading to the anticipated approval of onasemnogene abeparvovec-xioi. Additional clinical therapies that are on the horizon are discussed and the importance of continued multidisciplinary care even after treatment is emphasized. The pursuit of therapies for spinal muscular atrophy is becoming a success story and continued development of biomarkers will allow for more informed therapeutic decision making and eventual cost-effective utilization of available therapies.
Authors: Mario Mietzsch; Jennifer C Yu; Jane Hsi; Paul Chipman; Felix Broecker; Zhang Fuming; Robert J Linhardt; Peter H Seeberger; Regine Heilbronn; Robert McKenna; Mavis Agbandje-McKenna Journal: J Virol Date: 2021-09-22 Impact factor: 5.103