People with spinal muscular atrophy (SMA) are living longer, attending college, pursuing a variety of careers, and traveling more, thanks to a combination of new disease-modifying therapies, better quality care, and improved rights for those with disabilities. It also means they now are encountering unique sets of challenges in…
Despite being mostly unaware of spinal muscular atrophy (SMA), most Japanese parents support newborn screening for the disease, according to data from a small survey-based study. The most cited reasons behind this support included the importance of early diagnosis and the fact that treatments are available. These findings add…
Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…
Sensory nerves — those responsible for transmitting sensory information — are progressively damaged in children with spinal muscular atrophy (SMA) type 1 as these patients age, according to a small study in Italy. Importantly, major functional deficits in the sensory nerves of both the arms and the legs were…
Participate in a paintball war. Meet Snoop Dogg. Be the first disabled person to go to space. These are just a few of the 40-plus items on Zarek DeMarco Elizondo’s bucket list. With his older brother, Zachary Markel Elizondo, by his side, Zarek, who has spinal muscular atrophy (SMA)…
Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research into…
Despite its high cost, giving the one-time gene therapy Zolgensma to an infant identified through newborn screening with spinal muscular atrophy (SMA) is cheaper in the long run than starting treatment with Spinraza (nusinersen) after symptom onset, according to a cost-effectiveness study in Australia. Combining newborn screening (NBS) and early…
Today, the Muscular Dystrophy Association (MDA) is officially launching its MDA Quest Podcast, which will feature conversations with neuromuscular disease patients, doctors, family, caregivers, and others touched by the community in some way. Hosted by Mindy Henderson, who has spinal muscular atrophy (SMA) type 2, the podcast will…
The gene therapy Zolgensma safely improved mobility in young children with spinal muscular atrophy (SMA) living in Qatar, a real-world study shows. The case series study, “Gene therapy for spinal muscular atrophy: the Qatari experience,” was published in the journal Nature Gene Therapy. Zolgensma…
The U.S. Food and Drug Administration (FDA) has lifted its partial hold on clinical trials of OAV-101 (AVXS-101), an investigational intrathecal gene therapy for the treatment of spinal muscular atrophy (SMA). The agency put a hold on the open-label clinical trial STRONG in 2019, citing concerns seen in…
