Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24-Month Follow-Up From the Italian Registry - PubMed
2 hours ago
- #gene therapy
- #spinal muscular atrophy
- #clinical outcomes
- Onasemnogene abeparvovec (OA) is an AAV9-based gene therapy for spinal muscular atrophy type I (SMA I).
- Real-world outcomes show increased response variability compared to clinical trials, with limited follow-up data beyond 12-18 months.
- This 24-month prospective observational study describes clinical outcomes of an Italian cohort of SMA I patients treated with OA.
- Patients were categorized into monotherapy (OA only), bridge therapy (transition to OA within 3 months of starting nusinersen or risdiplam), or switch therapy (transition to OA after >3 months of 1st treatment).
- All patients showed significant improvement over 24 months (β = 20.40 points/year, p < 0.001).
- Patients who switched showed slower improvement compared to monotherapy, while those who bridged showed no difference.
- Older age at treatment was associated with slower improvement (β = -1.48 points/year per month, p = 0.002).
- Of 49 non-sitters at baseline, 39 (80%) achieved sitting and 5 (10%) achieved walking.
- No new safety signals emerged in the second year of follow-up.
- Age and baseline motor functional status significantly influence outcomes, but initial treatment confounds individual effects.
- Longer follow-up is essential for evaluating therapeutic responses in heterogeneous SMA I populations.