Author Archives: Marisa Wexler MS

SMA Caused by Mutation in ASAH1 Gene Reported in Romania

The first-ever case of someone in Romania with spinal muscular atrophy (SMA) caused by a mutation in the ASAH1 gene was described in a recent report. The study, “Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency,” was published in the …

FDA Lifts Hold on Clinical Trials of Intrathecal OAV-101

The U.S. Food and Drug Administration (FDA) has lifted its partial hold on clinical trials of OAV-101 (AVXS-101), an investigational intrathecal gene therapy for the treatment of spinal muscular atrophy (SMA). The agency put a hold on the open-label clinical trial STRONG in 2019, citing concerns seen in…

UK NICE Expands Access to Spinraza for SMA Type 3

A decision from England’s National Institute for Health and Care Excellence (NICE) will make Spinraza (nusinersen) available to people with spinal muscular atrophy (SMA) type 3 who are unable to walk. In England, Spinraza is available through a managed access agreement (MAA) between NICE, the National Health…

German Study Urges Newborn SMA Screening, Citing Better Outcomes

Newborn screening can aid in the early diagnosis and prompt treatment of spinal muscular atrophy (SMA), which can lead to better clinical outcomes, according to a German study. “We strongly recommend that newborn screening for SMA ought to become universal in countries that provide SMA-specific medication,” the study’s researchers…

European Alliance Calls for Newborn Screening

The European Alliance for Newborn Screening for Spinal Muscular Atrophy is calling on all European states to introduce routine screening of all newborns for spinal muscular atrophy (SMA) by 2025. The recently-formed Alliance, which is composed of European patient organizations, academics, and the pharmaceutical industry, published its first white…