While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…
News
Patient advocacy groups, a university, and pharmaceutical companies are among the 12 new partners of the European Alliance for Newborn Screening in Spinal Muscular Atrophy, also known as the SMA NBS Alliance. SMA Europe founded the alliance last year in an effort to include SMA in all newborn…
Beginning next month, Cure SMA will offer a three-part Career Panel Webinar Series tailored to the spinal muscular atrophy (SMA) community in the United States. The series, sponsored by Biogen, opens Feb. 16 at 7 p.m. EST. The hourlong event will include a question-and-answer session, and those interested are…
Improvement in motor function, breathing, and ease of administration are among the factors that people with spinal muscular atrophy (SMA) and their caregivers value most when deciding on available treatments, a new study reports. The study, “Treatment preference among patients with spinal muscular atrophy (SMA): a…
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
Among children with neuromuscular disorders, those with spinal muscular atrophy type 1 (SMA 1) appear to be more vulnerable to more severe COVID-19 symptoms, a small study suggests. However, the course of disease in children with neuromuscular disorders overall may not be as…
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…
Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a well-deserved…
A free resource booklet, published by Cure SMA, may help people with spinal muscular atrophy (SMA) to better understand the possible risks and benefits of combining different treatments for the disease. The booklet, titled “Scientific Considerations for Drug Combinations,” is available online. The past several years…
Efficacy and safety results from the TOPAZ Phase 2 trial evaluating apitegromab, a muscle-directed therapy for spinal muscular atrophy (SMA) being developed by Scholar Rock, are expected by June, the company announced. “2020 was a transformative year for Scholar Rock with … positive interim data from the TOPAZ…
