Onasemnogene abeparvovec (Zolgensma®) is effective at improving motor function and achieving motor milestones in patients with spinal muscular atrophy (SMA) type 1, according to a systematic review and meta-analysis published in Human Gene Therapy. Based on a systematic review of 11 studies and a meta-analysis of data from 4 studies, patients who received onasemnogene abeparvovec…
Prior to the use of disease-modifying therapies (DMTs), hip pain most commonly occurred in patients with spinal muscular atrophy (SMA) type 2 disease compared to those with SMA type 1, according to a retrospective study published in JB & JS Open Access. In the study, 23 out of the 72 patients (32%) in the cohort…
Diagnosis and treatment for spinal muscular atrophy (SMA) may be initiated in utero, an approach supported by most patients, according to an observational study. Of all survey respondents, who included patients with SMA or the parents of individuals with SMA, only 2% received a prenatal diagnosis, while 81% thought their diagnosis was delayed. Nearly all…
Levels of serum leptin are not a useful biomarker of the severity of spinal muscular atrophy (SMA) type 2 or type 3 in children and adolescents, a cross-sectional study suggests. The results did not show any statistically significant correlation between motor function, as indicated by the Hammersmith Functional Motor Scale–Expanded scores of the patients, and…
Microvascular pathology may play a greater role than previously known in the etiology of spinal muscular atrophy (SMA), according to a study. The findings showed that the underlying biological mechanism of microvascular dysfunction is autonomous abnormalities in angiogenesis and blood vessel creation, consequent to survival motor neuron (SMN) deficit in cultured human and mouse endothelial…
A mouse model demonstrates a single-cell atlas for severe spinal muscular atrophy (SMA) in the spinal cord, according to a recent study. After running a dimensionality reduction analysis, the researchers identified a total of 29 cell types. Fibroblasts showcased the most differing pattern compared to normal tissue, with a marked decrease in the number of…
A novel method could effectively identify serum metabolites of oligonucleotides (OGNs) used to treat patients with spinal muscular atrophy (SMA), according to a study. The researchers set out to identify better methods for assessing serum samples of patients with SMA who were prescribed nusinersen (Spinraza®). Using phenol/chloroform in a liquid-liquid extraction yielded suboptimal results, emphasizing…
A new study published in Global Medical Genetics investigated the relationship between the expression levels of 7 potential new modifier genes and spinal muscular atrophy (SMA). Of these 7 genes, researchers found 1, SERF1A, to have a modifying effect on the disease, while the remaining 6 genes did not. “This study is the first of…
The motor and functional scales most commonly used to assess adult patients with spinal muscular atrophy (SMA) have both strengths and limitations when evaluating these patients. When comparing motor functional scales, including the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM), with bedside functional scales, including Egen Klassification (EK2) and…
A new phase 4 clinical trial assessing risdiplam in patients with spinal muscular atrophy (SMA) who were previously treated with nusinersen is now open. Risdiplam is considered a reasonable alternative to nusinersen based on previous clinical trial data because it eliminates the risk of mechanical failure, intrathecal bleeding, and central nervous system infection associated with…
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