News

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

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):…

Spinraza (nusinersen) effectively preserves respiratory muscle strength in addition to motor function in children with spinal muscular atrophy (SMA) type 2, according to a real-life, small study in France. Larger studies are needed to confirm these findings, and to determine the usefulness of age-adapted respiratory muscle assessment as an efficacy measure…

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…

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…

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…

Transitioning from one wheelchair to another can be especially difficult for people with SMA. Most of the time, it is suggested that you receive a new wheelchair approximately every five years. As for my patient who has SMA, he has been in the same wheelchair for nineteen years. There have…

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 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…

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…