News

Children with spinal muscular atrophy (SMA), even those with substantial physical disability, tend to report that their quality of life is similar to other children their age, a small study from Germany reports. “The results from this pilot study show that German children with SMA, despite significant physical disability,…

Voyager Therapeutics is collaborating with Novartis to discover and develop next-generation gene therapies for conditions like spinal muscular atrophy (SMA). Under terms of the agreement, Novartis will obtain a target-exclusive license to Voyager’s TRACER capsids for SMA and Huntington’s disease, and it will…

A Phase 1b/2a clinical trial testing the experimental therapy AJ201 in people with spinal and bulbar muscular atrophy (SBMA) has finished enrolling patients and topline data are expected in the first half of 2024. The milestone was announced by Avenue Therapeutics, which last year acquired rights to…

Throughout 2023, SMA News Today brought you the most up-to-date news on scientific breakthroughs and treatment advances related to spinal muscular atrophy (SMA). These are the top 10 most-read articles we published throughout that year, with a brief reminder of what made them relevant to the SMA community. We…

A novel mutation in the ASAH1 gene was identified as the cause of severe fluid buildup with swelling (hydrops fetalis) and cardiac abnormalities in an unborn fetus who later died from the complications in a recent report. ASAH1 mutations are associated with a spectrum of different genetic rare disorders, including…

Three young people with severe spinal muscular atrophy (SMA) type 1 and treated with Spinraza (nusinersen) after their disease had already significantly advanced were seen by their caregivers to better control their finger and face movements, according to a Japanese report. The gains helped the patients, who depended…

The start of a newborn screening (NBS) program for spinal muscular atrophy (SMA), allowing early treatment for infants found to have the disease, added to healthy years of life for patients in Belgium, according to a real-world analysis of its cost-effectiveness. “Spinal muscular atrophy newborn screening coupled with early…

Researchers in the U.S. report using a gene-editing method to alter the SMN2 gene sequence, leading to normal levels of the survival motor neuron (SMN) — the protein that is lacking in spinal muscular atrophy — in early studies. These results were obtained in a cell line derived from…

The gene therapy Zolgensma (onasemnogene abeparvovec) did not cause any serious long-term safety problems when used in children with type 1 spinal muscular atrophy (SMA) in a real-world study from the U.K., and most treated patients experienced improvements in motor function. “This is one of the largest studies…

Blood levels of troponin-I, a marker for heart muscle damage, are best measured before and after gene therapy in each newborn with spinal muscular atrophy (SMA), a new study concluded. Although elevated troponin-I has been associated with SMA gene therapy, levels above the reference values generated from adults…