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January 03, 2025
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Gene therapy slows progression of spinal muscular atrophy type 2

Fact checked byShenaz Bagha
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Topline results from a phase 3 clinical trial showed an investigational gene therapy for young people with spinal muscular atrophy type 2 increased mobility and slowed disease progression, according to a press release from Novartis.

The randomized, double-blind STEER study examined the safety and efficacy of intrathecal onasemnogene abeparvovec (OAV101 IT) in more than 100 treatment-naive individuals with spinal muscular atrophy type 2, aged 2 to 17 years. Patients were able to sit unaided but were never able to walk independently.

The New Picture of Spinal Muscular Atrophy: Testing, Treatments, and Transitions
Topline results of a phase 3 clinical trial of an investigational gene therapy for spinal muscular atrophy type 2 found the treatment slowed disease progression and increased mobility. Image: Adobe Stock

The study met its primary endpoint of an increase from baseline in total Hammersmith Functional Motor Scale – Expanded (HFMSE) scores, with those in the treatment group demonstrating greater degree of improvement compared with sham controls, according to Novartis.

The company additionally stated in the release that the safety profile of OAV101 IT was favorable, with the most common adverse events being upper respiratory tract infection, pyrexia and vomiting.

Results from STEER built on data from the phase 1/2 open-label STRONG clinical trial, which showed treatment with OAV101 IT led to a clinically meaningful increase in HFMSE scores at 1 year in patients aged 2 to 5 years. The novel therapy is also being investigated in the phase 3b STRENGTH study, an open-label, single-arm, multicenter trial examining the safety, tolerability and efficacy of OAV101 IT in patients with spinal muscular atrophy who had discontinued treatment with nusinersen or risdiplam.

Novartis said it will share STEER results with the FDA and other regulatory agencies early in the new year, with full data expected to be presented at a future medical conference.

“Many patients with [spinal muscular atrophy] currently rely on chronic treatments to manage their disease,” Shreeram Aradhye, MD, president of development and chief medical officer at Novartis, said in the release. “We remain committed to leading innovation in SMA treatment through our one-time gene therapies, uniquely designed to replace the function of the missing or defective SMN1 gene.”