With newly available disease-modifying therapies, the phenotype of spinal muscular atrophy (SMA) is rapidly changing, and affected individuals are living longer, healthier lives. 1-4 This supplement discusses therapeutic strategies, FDA-approved treatment options, and the SMA drug pipeline.
To access Part 1 of the SMA Spotlight series, The Urgent Need for Early Diagnosis in Spinal Muscular Atrophy, visit www.mdedge.com/DiagnosisInSMA.
- Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723-1732.
- Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378(7):625-635.
- Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose genereplacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377(18):1713-1722.
- De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord. 2019;29(11):842-856.