News

Novartis Pharmaceuticals Canada is lauding the province of Quebec for its decision to provide public reimbursement for Zolgensma (onasemnogene abeparvovec), an approved gene therapy for spinal muscular atrophy (SMA) in children. Zolgensma is the first gene therapy to receive formal public reimbursement in Canada. The current recommendation…

A University of Michigan (U-M) senior with spinal muscular atrophy (SMA) has won the school’s James T. Neubacher Award for his efforts to help make the campus — and everywhere else — more accessible to people with physical disabilities. Vincent Pinti, a political science major minoring in Spanish,…

The U.S. Food and Drug Administration (FDA) has added acute liver failure to the list of safety concerns with use of Zolgensma (onasemnogene abeparvovec-xioi) in children with spinal muscular atrophy (SMA). The therapy’s label has been updated to contain a boxed warning highlighting the risk of higher-than-normal…

Motor function and stabilizing or improving breathing — along with oral administration — are the factors that adult patients and caregivers of children with spinal muscular atrophy (SMA) type 2 or 3 who cannot walk value most when deciding on available treatments, a U.K. survey study shows. Avoiding…

Tranexamic acid (TXA) effectively reduced blood loss by over 50% during surgery to correct for scoliosis caused by spinal muscular atrophy (SMA), a 20-year study demonstrated. The medication also lowered the volume of blood transfused during surgery by 60%, and reduced the amount of crystalloid solutions used to maintain…

Children with spinal muscular atrophy (SMA) who have spine deformities or weak trunk muscles are more likely than others to have substantial limits to functional abilities and life activities, a study in patients ages 6 months to 15 years reported. Strengthening trunk muscles through regular exercise and physical therapy…

Roche and its subsidiary Genentech are launching a Phase 2/3 clinical trial to evaluate the safety and efficacy of GYM329 (RO7204239), an investigational anti-myostatin antibody, in combination with Evrysdi (risdiplam) in children with spinal muscular atrophy (SMA). The MANATEE trial has two parts. In part one, 36…

Flying can be an ordeal for many people with disabilities who rely on wheelchairs to get from point A to point B. Sometimes disabled travelers get to their destination only to realize their wheelchair or scooter is broken or missing. In 2019, the year after airlines were required to release…

For spinal muscular atrophy (SMA) patients with spinal deformities, administration of Spinraza (nusinersen) by a novel subcutaneous intrathecal catheter system improved upper limb function, a small study reports. This delivery technique, however, increased the risk of mechanical malfunction and infections, the researchers noted. The study, “…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…