SMA is a rare, debilitating neuromuscular condition that is often fatal before 2 years of age if untreated. Treatments are now available that profoundly improve prognosis, including OA, a one-time, intravenous gene replacement therapy. While efficacy and safety of OA have been demonstrated in interventional clinical trials, only patients aged ≤6 months were enrolled, highlighting the need for real-world data on OA use in older patients with SMA, who also urgently require treatment. Here we describe characteristics of patients receiving OA beyond 6 months of age in RESTORE, a comprehensive registry of patients with SMA.
The RESTORE registry is an ongoing, prospective, multicenter, multinational, observational study including patients in the OA managed access program and new enrollees from partnering clinical sites. Planned follow-up duration is years from enrollment or until death.
As of 04Aug2020, RESTORE included 36 patients with SMA aged >6 months at OA infusion (17 [47.2%] aged >6-12 months; 15 [41.7%] aged >12-24 months; 4 [11.1%] aged >24 months). All patients were enrolled and treated in the United States. 22 (61.1%), 13 (36.1%), and 1 (2.8%) had 2, 3, and 4 SMN2 copies, respectively. OA was the only treatment administered for 13 patients (36.1%); 12 patients (37.5%) received prior nusinersen treatment with no recorded doses after OA infusion; 10 patients (27.8%) received ≥1 nusinersen dose before and after OA infusion; 1 patient received nusinersen after OA. For patients with information available: 11/25 (44.0%) weighed ≥8.5 kg at the time of OA infusion; 24/31 (77.4%), 5/31 (16.1%), and 1/31 (3.2%) were diagnosed with SMA type 1, 2, and 3, respectively; 1 patient (3.2%) was diagnosed presymptomatically. Updated data including outcomes will be presented.
The RESTORE registry provides real-world data for enhancing our understanding of patients cared for in routine practice following treatment with OA.