Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report - PubMed
2 days ago
- #case report
- #spinal muscular atrophy
- #combination therapy
- Combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam was used in a patient with prenatally diagnosed spinal muscular atrophy type 0.
- The patient achieved independent walking at 2 years 11 months and sustained development without swallowing or respiratory difficulties up to 3.5 years of age.
- Early intervention with combined disease-modifying therapies may benefit patients with severe spinal muscular atrophy phenotypes.
- Evidence on the efficacy and safety of combination therapy is still lacking, requiring cautious application based on clinical status.
- The case highlights the potential of early and combined treatment strategies in severe SMA cases.