Gene therapy for spinal muscular atrophy

GlossaryVg/kg = vector genomes/kilogram SMA = Spinal Muscular Atrophy AAV9 = Adeno-associated virus serotype 9 CHOP-INTEND: Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, a motor assessment tool devised for infants with SMA. This has 16 items graded on a scale of 0 to 4, with 0 being no response and 4 being complete response. Introduction Spinal muscular atrophy (SMA) is a severe neurodegenerative condition resulting from recessive mutations in the SMN1 gene and insufficient survival motor neuron (SMN) protein production.1 Lack of SMN protein causes irreversible degeneration of lower motor neurons and consequential muscle atrophy and weakness. Onasemnogene abeparvovec, marketed under the name Zolgensma, directly replaces the SMN1 gene using a non-replicating, non-pathogenic modified adeno-associated virus serotype-9 (AAV9). In this article, we outline the patient selection process for treatment with onasemnogene abeparvovec, with some illustrative clinical...
Source: Archives of Disease in Childhood - Education and Practice - Category: Pediatrics Authors: Tags: Medicines update Source Type: research