Larry Luxner profile picture

Larry Luxner

At Bionews we’re committed to providing the most accurate, relevant, and up-to-date reporting for our patient communities. Our goal is to ensure that everyone has access to disease-specific information that is both trustworthy and easy to understand. You can read more about our editorial policy here.

Articles by Larry Luxner

January 25, 2018 News by Larry Luxner

SMA Expert Arthur Burghes, Speaking in Poland, Urges Universal Newborn Screening

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."