In infants with spinal muscular atrophy (SMA), treatment with Spinraza (nusinersen), the first FDA-approved drug for SMA, reduces the risk of death or permanent ventilation, according to new results from the Phase 3 ENDEAR study (NCT02193074). Biogen presented the data at the British Paediatric Neurology Association (BPNA)…
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Patients with spinal muscular atrophy (SMA) are at risk of developing the metabolic disorder ketoacidosis, a less recognized complication that is easy to treat, according to a case study. Researchers behind the work, “Stress-Induced Ketoacidosis in Spinal Muscular Atrophy: An Under-Recognized Complication,” noted that testing for the condition, which…
Researchers may have discovered a new treatment for spinal muscular atrophy (SMA). Identifying a molecule that prevents the SMN2 gene from being read by protein-making machinery, they then showed that getting rid of it increased SMN protein levels. Importantly, the approach also enhanced the effectiveness of a splice-modification drug that works much like the…
A number of important discoveries, therapeutic developments, and events related to spinal muscular atrophy (SMA) were reported daily by SMA News Today throughout 2016. Now that the year is over, it is time to briefly review the articles that appealed most to our readers. Here are the 10 most-read articles of 2016,…
Patients with spinal and bulbar muscular atrophy (SBMA) may be at risk of developing respiratory complications due to a decline in the levels of genes responsible for muscle strength, according to a new study. The authors assert that monitoring the breathing decline in these patients may help provide better clinical…
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…
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…
