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)…
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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…
Without treatment, most people with spinal muscular atrophy (SMA) who have four copies of the “backup” SMN2 gene will start developing symptoms in early childhood, a study indicates. “The early onset of symptoms in our cohort, coupled with the expected wide clinical variability, strongly supports the characterization of SMA…
Implementing the global compassionate use program (CUP) that enabled more spinal muscular atrophy (SMA) patients to access Evrysdi (risdiplam) required close collaboration with patient advocacy groups and careful consideration of local regulations, according to a new report. Taking such steps was key in helping the CUP to reach…
Despite treatment with leuprorelin over three years, all spinal and bulbar muscular atrophy (SBMA) patients in a study in Korea continued to experience declines in motor function, a new study found. However, those individuals with less disability at the start of treatment experienced slower disease progression, “indicating a more…
