A Gene, A Breakthrough, A Challenge: Lessons From the History of Spinal Muscular Atrophy
Three disease-modifying therapies now exist for spinal muscular atrophy, but access remains severely limited by cost in most of the world.
This historical review traces SMA from its initial clinical descriptions through the 1995 SMN1 gene discovery to the development of three approved disease-modifying therapies (nusinersen, onasemnogene, risdiplam). The authors highlight the global equity gap in access to these transformative but extremely expensive treatments as the primary remaining challenge.
What the study was
- Study design
- Historical review / narrative
- Population
- Children with spinal muscular atrophy (global context)
- Category
- Treatment Innovation
- Maturity
- Validated
- Journal
- Journal of Child Neurology
Why it surfaced
Rare disease watchlist coverage; SMA has transformed treatment landscape but global access remains severely limited. Historical review — no new primary data.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.