A Phase 2 clinical trial is testing the effectiveness of Mestinon (pyridostigmine) — an approved medicine for another neuromuscular disease — in treating fatigue in people with spinal muscular atrophy (SMA) types 2, 3 and 4. The trial’s…
Psychological interventions to control emotional stress can help relieve the anxiety that parents and children with spinal muscular atrophy (SMA) type 1 feel during Spinraza administration through spinal taps, an Italian study reports. Researchers recommend that similar interventions become part of the…
A newly identified mutation in the DYNC1H1 gene causes a rare form of spinal muscular atrophy known as SMA with lower limb predominance (SMA-LED), which is associated with learning difficulties and brain malformations, according to a…
Spinal muscular atrophy (SMA) patients can be more prone to a life-threatening metabolic imbalance called ketoacidosis, which causes the blood to become acidic, a case report highlights. In patients with neuromuscular diseases like SMA, physicians should be particularly suspicious of this complication so that…
Lowering the levels of a protein called CHP1, together with Spinraza (nusinersen) treatment, may help to improve responses to therapy in spinal muscular atrophy (SMA) patients, a study in a mouse model of the disease suggests. Because CHP1 is independent…
A key player in a pathway known as the cell’s “cleaning system” could be a promising target for alternative approaches to treating spinal muscular atrophy (SMA), a mouse study suggests. The study, “Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes,”…
A pathway known as the cell’s “cleaning system” may be a promising target of alternative approaches to treating spinal muscular atrophy (SMA) — ones that look beyond the disease-causing mutation. This possibility is the focus of the perspective article, “Autophagy inhibition: a…
Neurological health depends as much on signals sent by the body’s leg muscles to the brain as it does on those sent from the brain to the muscles, according to a recent study. These results offer new clues as to why patients with neurological diseases such as spinal muscular atrophy (SMA)…
AVXS-101 has been awarded the SAKIGAKE designation in Japan for the treatment of spinal muscular atrophy (SMA) type 1. This designation will speed the therapy’s development and review process and allow faster license applications in Japan. AVXS-101, the lead product candidate of AveXis,…
Many parents of children with neuromuscular disorders like SMA would like to see if yet-to-be-approved therapies could help them. But a lot them hesitate to let their children participate in clinical trials because they lack information on the trials’ requirements and risks, and they worry that…
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