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…
Results from a study examining sleep health in individuals with multiple sclerosis (MS) demonstrated that 76% of participants measured in extreme ranges for at least 2 of 7 sleep domains. Poor sleep quality affected 45% of participants, abnormal sleep timing affected 35%, and pathological daytime sleepiness affected 33%. Investigators calculated median values of 456.3 minutes…
Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Durhane Wong-Rieger, PhD, president and CEO of the Canadian Organization for Rare Disorders (CORD) and chair of Rare Diseases International (RDI). Dr. Wong-Rieger talks about the challenges of diagnosing and treating diseases in Canada, as well as advancing access to therapies around the globe. Read the…
The Canadian Organization for Rare Disorders advocates for better diagnosis and drug access for Canada’s 3 million people with rare diseases.
Through the combined efforts of researchers, key biomarkers of spinal muscular atrophy have been identified.
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…
Lipids, which play a key role in the pathogenesis of multiple sclerosis, can be used as targets or carriers of treatment.
By 2025, between 10 and 20 new gene therapies could win approval annually by the US Food and Drug Administration (FDA), most of them delivered via adeno-associated virus (AAV). Yet Duchenne muscular dystrophy (DMD) presents some unique challenges for AAV-delivered gene therapy — namely because the dystrophin gene, which is missing in DMD, is one of…
