On the eve of the weekend Christmas holiday, the U.S. Food and Drug Administration (FDA) approved Biogen’s therapy Spinraza (nusinersen) for the treatment of spinal muscular atrophy in both children and adults. The landmark approval marks the first time the federal agency has approved a therapy that directly treats the orphan disease, which is…
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The levels of SMN protein — the factor missing in spinal muscular atrophy (SMA) — in skin cells are proportional to the number of copies of the SMN2 gene, and therefore has potential to be used as a marker of disease severity in clinical trials. The study,…
Japanese researchers have identified a new gene that likely gives rise to spinal muscular atrophy (SMA) with severe brain degeneration. The team at the University of Miyazaki studied two sisters who developed atypical SMA shortly after birth. Atypical SMA involves muscle atrophy that is accompanied by other neurological symptoms, such…
Researchers have become quite good at making stem cells grow into neurons in the lab, even without fully understanding the actual cellular processes that accompany the transition. Now, a study describes the sequence of events that make a signaling nerve cell out of an immature stem cell — knowledge that will be…
Researchers compared children with types 1 and 2 spinal muscular atrophy (SMA) in terms of body composition and resting energy expenditure, and found those measures — for now — are the best to use when attempting to determine their appropriate dietary needs. Body mass and body weight index Z-scores (a measure…
Nusinersen, an investigational drug for the treatment of spinal muscular atrophy (SMA) is acceptably safe and well tolerated, and shows encouraging clinical efficacy according to a study published in the leading medical journal The Lancet.
Good Start Genetics and Roche Diagnostics have entered into a marketing agreement to sell Good Start’s GeneVu carrier screening service for inherited genetic disorders, such as cystic fibrosis (CF) and spinal muscular atrophy (SMA). Under the terms of the contract, Roche Diagnostics will provide obstetricians and general practitioners in the…
PTC Therapeutics announced the initiation of a Phase 2 clinical trial to test the safety, tolerability, and efficacy of the small molecule RG7916 for the treatment of children and adults with type 2 and type 3 spinal muscular atrophy (SMA).
Blocking molecules that normally act as muscle degrading factors may offer a treatment approach for milder forms of spinal muscular atrophy (SMA), demonstrated in experiments with a mouse model of SMA type 3. The study, “Activin Receptor Type IIB Inhibition Improves Muscle Phenotype and Function in a Mouse Model…
Spotlight Innovation announced that it has acquired an exclusive, worldwide license to commercialize STL-182, an orally administered small molecule under investigation as a potential treatment for spinal muscular atrophy (SMA). SMA is an autosomal recessive disorder. Between 1 in 40 and 1 in 50 adults have only a single intact…
