Challenges and opportunities in spinal muscular atrophy therapeutics. Crystal J J Yeo et al. Lancet Neurol 2024 1 (2) 205-218 (Posted Jan 26, 2024 10AM)

https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=nd&query=home From the abstract: " Spinal muscular atrophy was the most common inherited cause of infant death until 2016, when three therapies became available: the antisense oligonucleotide nusinersen, gene replacement therapy with onasemnogene abeparvovec, and the small-molecule splicing modifier risdiplam. These drugs compensate for deficient survival motor neuron protein and have improved lifespan and quality of life in infants and children with spinal muscular atrophy. Given the lifelong implications of these innovative therapies, ways to detect and manage treatment-modified disease characteristics are needed. All three drugs are more effective when given before development of symptoms."