A pilot newborn screening (NBS) program for spinal muscular atrophy (SMA) that started in Liège province has transitioned into an official, government-run program spanning Southern Belgium. Its architects described their experience, highlighting concepts that may be useful for creating similar programs, as well as problems that arose and how they…
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The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…
Ben Lou battles the weakness in his body that comes with having spinal muscular atrophy (SMA) type 2, but his mind is stronger than most: The 18-year-old was accepted to three of the most prestigious universities in the U.S. Lou is now in his first year at the Massachusetts Institute…
In a letter to a U.S. Department of Transportation Advisory Committee, Cure SMA called for better wheelchair handling and storage for people with spinal muscular atrophy (SMA) who travel by air. The patient advocacy organization shared its perspective on the challenges of airplane travel — from booking tickets to…
A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.
The Canadian Agency for Drugs and Technologies in Health (CADTH) will not recommend reimbursement for Zolgensma in children with spinal muscular atrophy (SMA) who are more than 6 months old, citing insufficient evidence of efficacy and safety in older patients. “Other countries are providing guidance and funding based…
Scholar Rock plans to soon initiate a Phase 3 clinical trial of apitegromab, its investigational muscle-directed treatment for spinal muscular atrophy (SMA), in type 2 and 3 patients who are unable to walk. “We anticipate initiating a Phase 3 trial to evaluate apitegromab in patients with non-ambulatory Type…
In infants with spinal muscular atrophy (SMA) type 1, lower blood levels of phosphorylated neurofilament heavy chain (pNF-H) — a marker of nerve cell damage — before starting treatment with Spinraza (nusinersen) are significantly associated with greater motor gains over time. These findings, based on data from the Phase…
Bionews Insights is launching a new survey, in collaboration with SMA News Today, with the goal of understanding how different aspects of this disease affect an individual’s quality of life. The survey, which is expected to take about 15 minutes to complete, opens with WHOQOL-100, a set of questions developed…
A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…
