Mutations that cause spinal muscular atrophy (SMA) may trigger problems with how bone cells communicate, leading to abnormally weakened bones, according to a study done in mice and cells. The findings suggest that treatments aiming to normalize bone cell communication could help improve bone health in SMA patients, researchers…
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Children with spinal muscular atrophy (SMA) type 1 can survive an episode of pediatric acute respiratory distress syndrome (pARDS), a type of life-threatening respiratory failure, according to a 12-year case series. While “pARDS remains a clinical challenge for SMA-1 children,” the researchers wrote, “the present series suggests survival is achievable…
People with spinal muscular atrophy (SMA) may show subtle abnormalities in eye movements, but these abnormalities are unlikely to be caused by weak muscles; instead, they likely arise due to changes in the brain, a study found. The study, “Central eye movement abnormalities in patients with SMA types…
Blocking a small RNA molecule called miR-140-3b can improve motor function in a mouse model of spinal muscular atrophy (SMA), a study suggested. Reducing miR-140-3b activity increased the levels of KIF5A, a protein involved in the transport of mitochondria (cellular powerhouses) inside nerve fibers. “We believe that KIF5A has…
Modifications that help certain genetic information travel to specific parts of nerve cells can ease motor symptoms and help normalize communication between nerves and muscles in a mouse model of spinal muscular atrophy (SMA), a study reported. SMA disrupts this nerve-muscle communication, which occurs at sites called neuromuscular junctions…
A one-time treatment designed to correct a single letter, or base, in the SMN2 gene increased levels of the survival motor neuron (SMN) protein — which is lacking in spinal muscular atrophy (SMA) — and prolonged survival in a mouse model of the disease when given before birth. The therapy…
In a new interview-based study, adults with spinal muscular atrophy (SMA) reported a lack of care coordination during their transition from pediatric to adult care settings — along with poor communication, no clear transition plans, and a need to self-advocate. Despite these challenges, nearly three-quarters of patients still reported…
Nearly all children with spinal muscular atrophy (SMA) who were started early on Evrysdi (risdiplam) in a clinical trial — as newborns, before the onset of symptoms — are now walking after three years on the approved oral therapy. Further, most of the youngsters also have no need…
A preclinical study found that blocking the SMPD1 enzyme with available drugs such as the antidepressant clomipramine increases the levels of SMN, the protein missing in spinal muscular atrophy (SMA), potentially offering a new treatment strategy. “The strategy presented here represents not only a new therapeutic approach for this…
SMA Europe has launched an online tool designed to help patients, doctors, and others in the spinal muscular atrophy (SMA) community more easily explore ongoing clinical trials across Europe and worldwide. The organization said it aims for the Clinical Trials Finder to become “the go-to global resource”…
