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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…
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…
The Alabama Department of Public Health (ADPH) has announced that spinal muscular atrophy (SMA) is now among the list of disorders being routinely screened in newborns. Testing infants for the disorder began on Feb. 14, the ADPH stated in a press release.  SMA was added to the state’s newborn…
The provincial government of British Columbia will cover the cost of Evrysdi (risdiplam), the oral spinal muscular atrophy (SMA) therapy approved by Health Canada in April for the at-home treatment of eligible patients age 2 months and older. Evrysdi’s annual costs are reported to be CA$93,456 (about $73,310) for…
A man with spinal muscular atrophy (SMA) type 2 in Japan who lived until his 60s was found after his death to have minimal damage in the brain but marked atrophy among the nerve cells of the spinal cord, an autopsy case report showed. “This report presents unique neuropathological…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion. Annie Kennedy is the chief of policy, advocacy, and patient engagement at the EveryLife Foundation for Rare…
A group of healthcare professionals involved in the diagnosis and care of people with spinal muscular atrophy (SMA) in Scotland, and in research into the rare genetic condition, is calling for the addition of SMA to the list of diseases included in the country’s free newborn screening (NBS) program.
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