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.

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 ...

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.

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 …

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 ...

Oct 11, 2024 · Data expected to support regulatory applications come from a pivotal group of patients enrolled in the study’s Part B. This involved 75 symptomatic infants with SMA, ages one week to 7 months, who had never been treated with SMA therapies (treatment-naïve), and who received Spinraza at either the approved lower dose or the high-dose regimen.

Nov 18, 2024 · Some 70% of children with spinal muscle atrophy (SMA) type 1 who underwent treatment with Spinraza alone or with Spinraza and then Zolgensma reached some motor milestones over 18 months, with greater improvements in those who received Spinraza early followed by Zolgensma, according to a small study.