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Respiratory muscle strength is more severely affected in people with earlier-onset forms of spinal muscular atrophy (SMA), but it generally declines over time across SMA types 1 to 3, according to data from a population-based natural history study. One of the measures of respiratory strength, peak expiratory flow, was found to…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Blood biomarker levels of muscle damage — rather than nerve cell damage — are significantly altered in people with a rare form of adult-onset spinal muscular atrophy (SMA) called the Jokela type (SMAJ), according to a study in Finland. Also, the levels of creatinine, a biomarker of muscle mass,…
Babies born in the Canadian province of Saskatchewan will now be tested for spinal muscular atrophy (SMA) as part of routine newborn screening. SMA is one of four medical conditions that have been added to the screening program administered to newly born infants by the Saskatchewan Health Authority. “Our…
Children, teenagers, and adults with later-onset spinal muscular atrophy (SMA), previously treated with Evrysdi (risdiplam), can now enroll in a new Phase 3b clinical trial to determine the efficacy of a higher dose of Spinraza (nusinersen). Biogen, the company that markets Spinraza, announced the enrollment of…
BioNews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
Biohaven Pharmaceuticals has entered into a worldwide licensing agreement to develop and commercialize Bristol Myers Squibb’s taldefgrobep alfa, a Phase 3-ready candidate therapy for spinal muscular atrophy (SMA). The company is planning to launch a Phase 3 trial to test the therapy (also known as BMS-986089) in…
Despite its well-reported benefits in motor function, Spinraza (nusinersen) may not be as effective at preventing or easing feeding and swallowing difficulties in children with spinal muscular atrophy (SMA) type 1, according to a single-center study in the U.K. Those with SMA type 1c, this type’s least severe subgroup, were more…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
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