AveXis‘ gene therapy AVXS-101, now under review for approval to treat infants with spinal muscular atrophy (SMA) type 1 in the U.S. and Europe, may be truly “transformative,” said Kenneth Hobby, president of the patient advocacy group Cure SMA. Trial data in this patient group “shows that a one-time dose of…
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AveXis has filed a first request for approval of its highly-anticipated gene therapy, AVXS-101, to treat infants with spinal muscular atrophy (SMA) type 1 with the U.S. Food and Drug Administration, CureSMA announced on its website. Similar applications were filed with regulatory authorities in the European Union and Japan, AveXis said in…
Standard general anesthesia for the administration of Spinraza (nusinersen) is safe and effective in children with type 2 spinal muscular atrophy (SMA), a retrospective study shows. The study, “A retrospective cohort study of children with spinal muscular atrophy type 2 receiving anesthesia for intrathecal administration of…
Aiming to establish a standard of care for people affected by spinal muscular atrophy (SMA), Cure SMA has unveiled what’s being touted as the first national clinical data registry specific to this neuromuscular disease. Cure SMA will invest $9.1 million over three years in the registry, part of a…
Biogen’s Spinraza (nusinersen) retards disease progression in pre-symptomatic spinal muscular atrophy (SMA) infants, allowing them to achieve motor milestones they would otherwise not reach, according to updated results of a Phase 2 clinical study. The interim data were presented in a late-breaking session at the Annual Congress…
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights to…
The investigational treatment risdiplam (RG7916) improved motor function in patients with type 1, 2 or 3 spinal muscular atrophy (SMA), according to preliminary results from the first part of two Phase 2/3 clinical studies. Risdiplam, being developed by Roche and Genentech in collaboration with PTC Therapeutics and the …
Patients with spinal muscular atrophy (SMA) are more susceptible to becoming tired during physical activity, which, in addition to muscle weakness, may contribute significantly to their decreased motor function, a study finds. The study, “A continuous repetitive task to detect fatigability in spinal muscular atrophy,”…
Researchers in Japan have developed a non-invasive test to measure levels of the SMN protein using cells circulating in the blood of spinal muscular atrophy (SMA) patients. The test is a potentially useful tool in monitoring treatment response. The results of the study, “A new biomarker candidate for spinal muscular…
Spinal muscular atrophy (SMA) type 1 has different disease courses between Plain (Amish and conservative Mennonite) communities, a recent natural history study shows. The study, “Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history,” was published in the journal Plos One.
