A novel monitoring tool called MScanFit may be a reliable way to assess the health of nerve and muscle cells in people with spinal muscular atrophy (SMA), a new study found. “This study demonstrated that MScanFit is feasible for the assessment of SMA patients,” the scientists wrote, noting the…
Serious side effects that can cause or prolong hospital stays occurred frequently among children with spinal muscular atrophy (SMA) who are receiving treatment with the gene therapy Zolgensma (onasemnogene abeparvovec-xioi), a new study of real-world safety data highlights. Specifically, according to the researchers, more than half of all…
A harness system designed for children with movement difficulties, the Portable Mobility Aid for Children (PUMA) improved or stabilized motor function among young patients treated for spinal muscular atrophy (SMA) in a small study. More frequent at-home use of the system, whose harness supports a child’s weight,…
Tiny carriers of cellular cargo called extracellular vesicles (EVs) — isolated from stem cells found in fat tissue — improved motor performance and slowed motor nerve cell degeneration in a mouse model of spinal muscular atrophy (SMA), according to recent research. Researchers believe these so-called ASC-EVs may offer the…
The troponin T (TNT) protein — a marker of heart muscle damage — was elevated in the bloodstream of more than half of spinal muscular atrophy (SMA) patients, especially in younger children with more severe disease, a recent analysis shows. Another heart-specific form of troponin called troponin I (TNI)…
In adults with spinal muscular atrophy (SMA), changes in the bloodstream in the levels of a protein called LARGE1 matched treatment responses to Spinraza (nusinersen), a study suggested. Further, LARGE1 levels in the cerebrospinal fluid (CSF) — the liquid that surrounds the brain and spinal cord — were also…
Six unusual cases of children with spinal muscular atrophy (SMA) caused by sequence variants, rather than the more common genetic deletion, were described in a recent report. SMA is caused by mutations in the SMN1 gene. Everyone inherits two copies of the gene, one from each parent. SMA…
The case of a boy with spinal muscular atrophy (SMA) who had severe hyperlordosis — when the lower part of the spine curves more than is normal, forcing the belly to protrude and leading to an almost C-shaped curve over the buttocks — was described in a recent report.
New research has identified mechanisms by which Evrysdi (risdiplam), an approved spinal muscular atrophy (SMA) therapy, has more specific effects at its target gene than branaplam, a similar molecule that was investigated as a possible SMA treatment, but later discontinued. Both molecules modify a process called splicing in…
Scholar Rock remains on track to report topline results later this year from its ongoing Phase 3 clinical trial of apitegromab in children and young adults with spinal muscular atrophy (SMA) types 2 or 3. Apitegromab is an antibody that targets myostatin, a protein involved in suppressing muscle…
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