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…
Daily treatment with Evrysdi (risdiplam) following the one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) is generally well-tolerated and leads to motor improvements in children with spinal muscular atrophy (SMA) type 1, according to a case series study. While children were followed for a short time after Evrysdi was…
More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…
From a Zoom book discussion to candle lightings, efforts to mark Spinal Muscular Atrophy Awareness Month, observed each August, are underway to increase awareness of this rare genetic disease and raise funds to battle it. Supporters are involved in a range of activities that including swapping out their social…
To better understand and address barriers to the implementation of newborn screening across Canada for spinal muscular atrophy (SMA), Muscular Dystrophy Canada (MDC) has awarded more than $700,000 to projects in three provinces. This is the first round of awards to come from a collaboration between MDC…
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