Jan 6, 2025 · Novartis plans to share the data with regulatory agencies, including the U.S. Food and Drug Administration, this year toward making the treatment available to SMA patients. The data will also be presented this year at a medical meeting. “These positive top-line results from the STEER trial underscore the efficacy, safety and tolerability of OAV101 IT in patients with SMA aged 2 and above ...

Oct 9, 2024 · The SAPPHIRE study enrolled 188 young adults and children with SMA type 2 or 3, including 156 patients, ages 2-12, in the main group, and 32 patients, ages 13-21, in an exploratory group. In addition to their standard of care, Spinraza or Evrysdi, patients were randomly assigned to receive apitegromab or a placebo via intravenous infusion every four weeks for 52 weeks, or about a year.

Nov 8, 2024 · Zolgensma delivers working copies of SMN1 to body’s cells. Zolgensma (onasemnogene abeparvovec-xioi) is a one-time gene therapy that delivers working copies of SMN1 to the body’s cells so that functional SMN protein can be produced.. In the current study, researchers from Germany, Austria, and Switzerland examined real-world data from 343 SMA patients treated with Zolgensma, including ...

Jan 3, 2025 · Read this story here. No. 5 — Combination therapy found to synergistically boost SMN production. When combined with a therapy like Spinraza, low-dose risdiplam — the active ingredient in Evrysdi, an approved disease-modifying treatment for SMA — boosted the production of SMN, the protein that’s deficient in SMA, beyond that of each treatment alone.

Oct 14, 2024 · People who inherit one copy of the mutated gene and one healthy copy are carriers. While they won’t develop SMA or disease symptoms, they can pass the condition on to their children.. Cells have a second, almost identical SMN2 gene that can compensate, but only partially, for the loss of SMN1.The number of SMN2 copies, which naturally varies across populations, generally influences SMA ...

Jan 8, 2025 · The addition of the protein, raising SMN protein levels (expression), in combination with an SMN2-targeting therapy was more effective than either of those approaches alone, the team, which created this full-length protein, noted. “These results provide compelling proof-of-principle evidence of the therapeutic potential of our [ready-to-use] protein as an add-on to the existing therapies ...

Jul 18, 2024 · Apitegromab in clinical trials. Apitegromab has been tested in a Phase 1 study in healthy volunteers which showed positive safety results and indicated the therapy was blocking myostatin activity as designed. This led Scholar Rock to launch the Phase 2 TOPAZ study (NCT03921528) and the Phase 3 SAPPHIRE trial (NCT05156320) in people with …

Feb 2, 2023 · Type 2 is an intermediate form of spinal muscular atrophy (SMA), a rare genetic disease characterized by the progressive loss of motor neurons — the nerve cells controlling voluntary movement — that leads to muscle weakness and wasting. This SMA form, one of five main types, manifests in infancy.

Dec 4, 2024 · The case study, “ A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy,” was published in the American Journal of Medical Genetics. SMA is marked by the degeneration of motor neurons, the nerve cells that control muscle movement, which causes symptoms such as muscle weakness and wasting (atrophy).. SMA-LED is a rare form of SMA caused by mutations in ...

Oct 30, 2024 · The study, “ Performance fatigability in adults with spinal muscular atrophy treated long-term with nusinersen,” was published in Muscle and Nerve. SMA is marked by symptoms including muscle weakness and wasting. Many patients also experience a phenomenon called performance fatigability, where repetitive movements such as walking cause tiredness over time, which makes it hard to keep doing ...