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Published on: May 7, 2020
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy:
Laurent Servais1,2, John W Day3, Darryl C De Vivo4
1MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Background:
Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing information for a larger number and broader range of SMA patients than included in clinical trials.
Objective:
We sought to describe patients with SMA treated with onasemnogene abeparvovec monotherapy in the real-world setting.
Methods:
RESTORE is a prospective, multicenter, multinational, observational registry that captures data from a variety of sources.
Results:
Recruitment started in September 2018. As of May 23, 2022, data were available for 168 patients treated with onasemnogene abeparvovec monotherapy. Median (IQR) age at initial SMA diagnosis was 1 (0-6) month and at onasemnogene abeparvovec infusion was 3 (1-10) months. Eighty patients (47.6%) had two and 70 (41.7%) had three copies of SMN2, and 98 (58.3%) were identified by newborn screening. Infants identified by newborn screening had a lower age at final assessment (mean age 11.5 months) and greater mean final (SD) CHOP INTEND score (57.0 [10.0] points) compared with clinically diagnosed patients (23.1 months; 52.1 [8.0] points). All patients maintained/achieved motor milestones. 48.5% (n = 81/167) experienced at least one treatment-emergent adverse event (AE), and 31/167 patients (18.6%) experienced at least one serious AE, of which 8/31 were considered treatment-related.
Conclusion:
These real-world outcomes support findings from the interventional trial program and demonstrate effectiveness of onasemnogene abeparvovec over a large patient population, which was consistent with initial clinical data and published 5-year follow-up data. Observed AEs were consistent with the established safety profile of onasemnogene abeparvovec.
Insights
Real-world data show onasemnogene abeparvovec effectively treats spinal muscular atrophy (SMA), with outcomes matching clinical trials. Observed adverse events align with its known safety profile in a broad patient population.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Real-world data are crucial for understanding long-term effectiveness and safety of spinal muscular atrophy (SMA) treatments.
- This is important for a broader patient population than typically included in clinical trials.
Purpose of the Study:
- To describe real-world outcomes in patients with SMA treated with onasemnogene abeparvovec monotherapy.
Main Methods:
- The RESTORE registry is a prospective, multinational, observational study.
- Data were collected from 168 patients treated with onasemnogene abeparvovec monotherapy between September 2018 and May 2022.
- Data captured from various sources.
Main Results:
- Median age at diagnosis was 1 month, and at infusion was 3 months.
- Patients identified via newborn screening had better outcomes (lower age at assessment, higher CHOP INTEND score) than clinically diagnosed patients.
- All patients achieved motor milestones; 48.5% experienced treatment-emergent adverse events (AEs), and 18.6% experienced serious AEs.
Conclusions:
- Real-world effectiveness of onasemnogene abeparvovec supports clinical trial findings in a large SMA patient population.
- Observed adverse events are consistent with the established safety profile of onasemnogene abeparvovec.
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