A new study published in the International Journal of Environmental Research and Public Health reported that perioperative IV tranexamic acid (TXA), a fibrinolysis inhibitor, can decrease intraoperative blood loss and crystalloid fluid volume overload during posterior spinal fusion surgery for scoliosis in patients with spinal muscular atrophy (SMA). These changes may allow earlier postoperative extubation…
A new study published in Scientific Reports highlights the importance of including spinal muscular atrophy (SMA) in all newborn screening programs and reports the lessons learned while transitioning from a pilot program to an official program. François Boemer, PhD, and the coauthors of the study report on 10 patients with SMA who were identified through…
Treatment with nusinersen (Spinraza®) improves motor function in adult and pediatric patients with type 2 and 3 spinal muscular atrophy (SMA), according to a new meta-analysis study published in the Orphanet Journal of Rare Diseases. All of the studies reviewed reported an increase in Hammersmith Function Motor Scale Expanded (HFMSE) for treated patients, and the…
Subcutaneous intrathecal catheters allow for the reliable outpatient administration of nusinersen in patients with spinal muscular atrophy (SMA), according to a new study published in Muscle & Nerve. This ultimately results in meaningful improvements in arm function. However, it creates the risk of technical malfunction and iatrogenic infection. Nusinersen, which is commercialized by Biogen as…
A new study found no correlation between delayed treatment due to the COVID-19 pandemic lockdown and a change in functional scores in children and adolescents with spinal muscular atrophy (SMA) in Italy. Due to the lockdown, 8 out of 25 patients (32%) experienced delays (median, 58 days; range 26-91) in their infusions of nusinersen, but…
A meta-analysis of preclinical gene therapy trials in spinal muscular atrophy (SMA) mouse models revealed that treated mice had a 3.23-fold increase in survival duration compared to controls. The results of the study, published in Gene Therapy, showed that this increased survival was observed for both nusinersen (Spinraza®) and onasemnogene abeparvovec-xioi (Zolgensma®) in preclinical trials…
A team of German researchers recently discovered that nusinersen, a disease-modifying therapy, can preserve bulbar function in patients with 5q-associated spinal muscular atrophy (SMA) types 2 and 3, according to a study published in Brain Sciences. They observed no changes (neither improvement nor decline) in the bulbar scores of those patients, which implied that nusinersen…
The biopharmaceutical company Scholar Rock plans to initiate a phase 3 clinical trial by the end of 2021 to evaluate apitegromab in patients with type 2 and type 3 spinal muscular atrophy (SMA) who cannot walk, according to a press release by the company. The chief medical officer of Scholar Rock, Yung Chyung, MD, said…
Risdiplam (Evrysdi®) treatment allows presymptomatic babies with spinal muscular atrophy (SMA) to maintain their ability to swallow, according to new data from the RAINBOWFISH study presented at the World Muscle Society 2021 Virtual Congress. “These new data for Evrysdi may help extend the potential benefits of this medicine to the youngest SMA patients,” said Levi…
More than 100 microRNAs (miRs) are differentially expressed in the muscles of patients with spinal muscular atrophy (SMA), a new study by Italian researchers found. Three of these are significantly overexpressed in patients’ serum, suggesting they may be actively secreted by the skeletal muscles. According to the authors of the study published in eLife, these…
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