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…
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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…
The practice of vacuum swallowing, a maneuver involving effort that’s intended to aid the movement of food through the throat, helped a man with spinal muscular atrophy (SMA) who had dysphagia, a swallowing impairment. “This is the first report of successful instruction and acquisition of vacuum swallowing in a…
