People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
Fourteen months of treatment with Spinraza (nusinersen) resulted in improved motor function in a previously untreated 15-year-old boy with late-onset spinal muscular atrophy (SMA), a case report in South Korea shows. The findings add to previous clinical trial and real-world evidence highlighting the benefits of Spinraza in late-onset…
Treatment with Spinraza (nusinersen) was found to reduce the use of ventilation support and to improve motor function in symptomatic infants and children with infantile‐ or later‐onset spinal muscular atrophy (SMA), according to 2.5-year data from the Phase 2 EMBRACE trial. These infants and children had been ineligible…
Four measures of motor ability — including one of continuous upper limb activity that can be done at the home — reliably detect significant functional changes over one or two years in people with spinal muscular atrophy (SMA) types 2 and 3, according to a natural history…
SMA News Today brought you daily coverage of the latest scientific findings, treatment developments, and clinical trials related to spinal muscular atrophy (SMA) throughout 2020. We look forward to reporting more news to patients, family members, and caregivers dealing with SMA during 2021. Here are the top 10 most-read articles…
Some children with spinal muscular atrophy (SMA) may develop thrombotic microangiopathy (TMA) — a rare condition characterized by blood abnormalities — following treatment with Zolgensma, a study reports. A serious complication, TMA was resolved with supportive…
Most children with spinal muscular atrophy (SMA) show an abnormal increase in the levels of liver enzymes — suggestive of liver damage — following treatment with Zolgensma, according to a study by Novartis, the therapy’s developer. This known side effect of the gene therapy was mainly very mild and…
Repeated administrations of Spinraza (nusinersen) were associated with the presence of macrophages — immune cells specialized in recognizing and eliminating harmful organisms and dead cells — with unusual features in the spinal fluid of two infants with spinal muscular atrophy (SMA), a case study reports. While these abnormalities…
Evrysdi (risdiplam) at its approved and therapeutic dose does not lead to eye damage in children or adults with spinal muscular atrophy (SMA), data from extensive ophthalmologic monitoring of patients in its clinical trials — prompted by earlier safety findings in monkeys — show. These data support the therapy’s favorable safety…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
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