AveXis reported that the planned pivotal clinical trial of its gene therapy candidate AVXS-101 for spinal muscular atrophy (SMA) Type 1 will enroll about 20 patients and will have a single-arm design, with the comparator being the natural disease history. This update follows the Type B meeting Sept. 30 with the…
The U.S. Food and Drug Administration (FDA) has accepted Biogen‘s new drug application for nusinersen, an investigational drug for spinal muscular atrophy (SMA), for priority review. The company also announced that the European Medicines Agency (EMA) validated nusinersen’s marketing authorization application (MAA). If nusinersen is approved, it will become…
Developmental milestones such as sitting unaided, rolling, crawling, standing or walking are rarely, even partially achieved by infants with type 1 spinal muscular atrophy (SMA), confirms a study published in the scientific journal Neuromuscular disorders.
A spinal muscular atrophy (SMA) collaboration has two Phase 2 clinical trials aligned to evaluate the safety, tolerability, and effectiveness of the investigational drug RG7916 in pediatric and adult patients of Type 2 and Type 3 SMA and in pediatric patients of Type 1 SMA. The SMA development program…
A new saliva-based screening test for the two most commonly inherited genetic disorders, cystic fibrosis (CF) and spinal muscular atrophy (SMA), is now available through Good Start Genetics, based in Cambridge, Massachusetts. The test, called VeriYou, costs less than $150. Because one in every 19 people are gene carriers for CF or SMA,…
Studies in different countries have shown that doctors recommend different measures for the care of children with type 1 spinal muscular atrophy. A recent study now shows that factors such as the doctors’ knowledge about the disease, their perceived best interest of the child, and regional context all play a role in recommendations and family…
A team of international researchers developed a revised upper limb module (RULM) to assess arm function in people with spinal muscular atrophy (SMA), which can capture progressive muscle weakness even in the weak end of the spectrum and in young children.
In a late-breaking session at the 2016 World Muscle Society Congress in Granada, Spain, Biogen and Ionis Pharmaceuticals presented new data from clinical trials for their co-developed drug candidate nusinersen for treating spinal muscular atrophy (SMA). Nusinersen, a potentially disease-modifying SMA therapy, is an antisense oligonucleotide (ASO) designed to…
A lack of the survival motor neuron 1 (SMN1) protein, the gene mutated in spinal muscular atrophy (SMA), affected liver development in mice — with liver defects evident before muscle symptoms start showing. The study, “Survival Motor Neuron (SMN) protein is required for normal mouse liver development,” published in the…
Children with spinal muscular atrophy (SMA) may present symptoms indicative of other genetic disorders, such as Farber disease, according to a case study. Researchers also highlighted the importance of analyzing DNA mutations, in addition to clinical observations, in more accurately diagnosing and treating rare diseases. The study, “Polyarticular Arthritis and…
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