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European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have…
Heart problems associated with spinal muscular atrophy (SMA) may be caused partially by calcium dysregulation in heart muscle cells in the absence of the survival motor neuron (SMN) protein, a study suggests. These findings not only shed light on the underlying mechanisms of heart problems in SMA — which…
Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from…
Although a disease of motor neurons, nerve cells of the spinal cord and brainstem, the earliest signs of spinal and bulbar muscular atrophy (SBMA) are in skeletal muscles, according to data from a mouse study. These findings suggest that changes in muscle strength and contraction are early disease…
Years of treatment with Spinraza (nusinersen) show sustained effectiveness, from motor skill gains to disease stabilization, and continued safety across a broad range of spinal muscular atrophy (SMA) patients, from toddlers to young adults, updated findings from the SHINE study show. The greatest benefits were among children with…
Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…
The European Commission (EC) has granted conditional approval to Zolgensma (onasemnogene abeparvovec) for treating patients with spinal muscular atrophy (SMA) and a clinical diagnosis of type 1 SMA, or for those with up to three copies of the SMN2Â gene. The approval will cover…
When working with a patient with SMA, you will most likely find that their sitting balance is not optimal while sitting unsupported, due to a lack of core strength. While every patient has different strengths and weaknesses, as well as abilities and disabilities, it is important to maximize their comfort…
Despite recent treatment advances, feeding difficulties are still one of the most common complications for infants with spinal muscular atrophy (SMA) type 1, an observational study has found. The study, “Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an…
A planned six-month interim analysis of a Phase 2 study of SRK-015 in children and adults with spinal muscular atrophy (SMA) will be delayed by about three months due to the COVID-19 pandemic, with early data now expected by year’s end, Scholar Rock announced. The TOPAZ clinical trial…
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