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High doses of a modified, non-infectious virus that is being used in gene therapy — including one now in clinical trials in spinal muscular atrophy patients — cause life-threatening toxicity in monkeys and piglets, researchers at the University of Pennsylvania Perelman School of Medicine report. Their study, “Severe toxicity…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Infants with spinal muscular atrophy (SMA) continue to show better motor control and strength the longer they receive Spinraza (nusinersen), concludes a new and long-term analysis of final data from a Phase 3 clinical trial in babies with type 1 disease. These infants are also less likely to be…

Researchers have provided new insight into the activation process of myostatin, which is targeted by the antibody SRK-015 — a potential treatment for spinal muscular atrophy (SMA). The study, “Tolloid cleavage activates latent GDF8 by priming the pro-complex for dissociation,” appeared in EMBO Journal. Myostatin, also known as…

An Ohio State University study of the way that SMA progresses in infants could help companies do a better job of designing clinical trials for therapies to combat the disease. Topics the study dealt with included the infants’ movement function and potential biomarkers of their disease. Titled “Natural history of…

SMA expert Dr. Arthur Burghes is calling for newborn screening for spinal muscular atrophy, and the urgent approval of new therapies for treating the disease. Burghes' remarks came in a keynote lecture at the International Scientific Congress on Spinal Muscular Atrophy in Kraków, Poland. The Jan. 25-27 event is the first in Europe dedicated specifically to the disorder, which occurs in roughly one in every 10,000 births. Burghes, a professor of biological chemistry and pharmacology at Ohio State University College of Medicine, spoke on the subject “Where Have We Come, Where Do We Go?” The SMA expert, who has a PhD from the University of London and did post-doctoral work at the University of Toronto, has spent 30 years studying the disorder. “During the time I’ve been researching SMA, we’ve gone from not knowing the gene [underlying the condition], to identifying the gene, to having mice models of the disease, to having large animal models, to actually having therapies,” Burghes told SMA News Today in phone interview Jan. 18 from his lab in Columbus, Ohio. “When those therapeutics are given early in the disease course or even before symptoms occur, they have a major effect on the progression of the disease.” Burghes also asked in his keynote, “what else should we put with SMN that could further improve treatments of both early and late symptomatic patients, what would those look like, should we put things that enhance muscle function together with an SMN inducer, and how do therapies get better from what they are?” Last year, the U.S. patient advocacy group Cure SMA started a grassroots campaign to convince all 50 states to pass legislation requiring newborn screening for SMA. “If you have newborn screening in place, and you treat everybody, you will probably have fewer issues,” Burghes said. “That’s why getting newborn screening onto the books and in place is extremely important.” So far, only Missouri and Minnesota have passed legislation requiring the testing. Other states, including Massachusetts, New York and Utah, are planing to implement it, and a bill is pending in the Ohio Legislature to do likewise, he said. “But in Europe, it’s more complicated. It seems to depend on which country you’re talking about,” Burghes said. “I have not seen anything come up in a legislative manner for SMA newborn screening, but I do feel the U.K. is beginning to move in this direction. So is France.” He added that “in Denmark, the authorities have decided that the benefit from Spinraza across all SMA types is not sufficient to justify the cost. But the effects are so dramatic in a newborn that this, in my view, should overturn that decision."

The U.K’s National Institute for Health and Care Excellence (NICE) has formally invited Biogen to submit Spinraza (nusinersen) for Single Technology Appraisal (STA) on its course toward possible NHS funding. Spinraza is the first approved spinal muscular atrophy (SMA) treatment in the E.U., the United States, and other…

Arm cycling training increased spinal muscular atrophy type 2 patients’ endurance and improved their results on movement tests, a small pilot study indicated. Despite researchers’ expectations, the training had no effect on patients’ levels of SMN protein or other factors that could help counter the disease. Nonetheless, the team at Hacettepe…

AveXis plans to launch clinical trials of its gene therapy AVXS-101 in a wider range of spinal muscular atrophy (SMA) patients — mirroring the company’s belief that the treatment may also benefit those with milder forms of the disease. The planned studies include one enrolling presymptomatic patients with…

Nearly 400 people have registered to attend Europe’s first-ever conference on spinal muscular atrophy, a rare neurological disease believed to affect between 21,000 and 25,000 people across the continent. The International Scientific Congress on Spinal Muscular Atrophy, set for Jan. 25-27 in the historic Polish city of Kraków, is…