The muscle atrophy and weakness characteristic of spinal muscular atrophy (SMA) is aggravated by the loss of fast-contracting white muscle fibers in patients with later-onset disease, an MRI study showed, reportedly for the first time. Production of the energy molecule ATP was also found to be impaired in white…
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Before the emergence of Spinraza (nusinersen) — the first disease-modifying therapy (DMT) approved for spinal muscular atrophy (SMA) — patients of all ages and types of the disease showed greater all-cause mortality than their peers who did not have SMA and the general population, according to a large study…
A family and medical history examination was crucial in the genetic counseling given a 28-year-old pregnant woman with two previous children with spinal muscular atrophy (SMA), whose standard genetic testing classified her as a non-carrier of the disease, a case study shows. This case highlights the limitations of standard carrier…
Biogen has exercised an option to acquire BIIB115, an investigational treatment for spinal muscular atrophy (SMA), from Ionis Pharmaceuticals. SMA is a rare genetic condition caused by mutations that lead to abnormally low levels of the survival motor neuron protein, known as SMN. BIIB115, previously called ION306,…
SMA News Today brought you daily coverage of the latest scientific findings, treatment developments, and clinical trials related to spinal muscular atrophy (SMA) throughout 2021. As a reminder of what mattered most to you during this year, here are the top 10 most-read articles of 2021 with a brief description of…
Adults with spinal muscular atrophy (SMA) type 2 have lower intelligence quotient (IQ) scores on assessments for working memory and perceptual reasoning compared with the general population, according to data from a new study. The study, “Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy,” was published in…
When it comes to treatments, people with spinal muscular atrophy (SMA) types 2 and 3 place a lot of value on medications that can stabilize or improve breathing and motor function, according to a study. Results also suggested a preference for oral treatments. The study, “Patient…
A “significant” economic burden is associated with spinal muscular atrophy (SMA), although differences in healthcare costs and resource use are evident among patients by SMA type, a large review study found. Not surprisingly, the greater burden is among patients with SMA type 1, one of this disease’s most…
A new and noninvasive type of antisense oligonucleotide (ASO) therapy effectively treated spinal muscular atrophy (SMA) in a mouse model with established symptoms, a study reported. Since symptomatic and late-onset SMA patients are the most difficult to treat, “our [therapy] should be considered a great improvement from a clinical…
Combined treatment with Spinraza and Zolgensma does not markedly improve motor function or breathing ability in children with spinal muscular atrophy (SMA) type 1, a small, single-site study reported. Its scientists highlighted that, regardless of the type of treatment given, earlier treatment leads to better outcomes. The study, “…
