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 occurred…
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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 may…
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 it.
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 infantile-onset…
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 SMN2 gene. The approval will cover infants…
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 Observational…
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 (…
Spinraza (nusinersen) improves muscle strength, endurance, and independence in adults with spinal muscular atrophy (SMA), meeting most of their positive expectations, a small, real-world study in Germany has shown. The data also showed that patients reported greater improvements than those observed with objective motor function measures, suggesting that patient-reported…
The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…
