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…
News
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 were…
Modified surgery to correct a severe abnormal curvature of the spine in people with spinal muscular atrophy (SMA) allowed for reliable access to the spinal canal for Spinraza (nusinersen) injections, a small study shows. Spinraza, guided by ultrasound, was successfully administered through a small hole created in the…
A type of surgery to correct scoliosis, a spine deformity, was found to be generally safe and effective in young people with spinal muscular atrophy (SMA) type 1, a small study shows. Called growth friendly instrumentation, the procedure had been well established for people with SMA type…
Treatment with Spinraza (nusinersen) led to modest improvements in motor function for most children with type 1 spinal muscular atrophy (SMA) who were on permanent ventilation in a Korean study. The results are particularly noteworthy because Spinraza is approved in South Korea only for those patients who are…
Being on Spinraza (nusinersen) for up to three years results in a gain in motor function for children with spinal muscular atrophy (SMA) type 2, with the youngest children benefiting the most from treatment, a small study has found. “It is therefore important to start the treatment as…
