A population-based study conducted in the state of New York demonstrates the feasibility and benefits of newborn screening for spinal muscular atrophy (SMA). Supported by these findings, researchers recommend adding SMA genetic tests to the national recommended uniform screening panel. The study, “Pilot study of population-based newborn…

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."

A study of the natural course of spinal muscular atrophy (SMA) type 1 supports the idea that treatment should be attempted as early as possible — further supporting arguments on the need for newborn screening in this disease. While considerable research indicates that early treatment is most…

Spinal muscular atrophy advocates have asked American regulatory officials to add SMA to the list of genetic conditions the federal government thinks newborns should be screened for. The request came in a meeting between the advocates and the government’s Advisory Committee on Heritable Disorders in Newborns and Children on Nov. 8.

Texas is considering adding spinal muscular atrophy (SMA) to its list for newborn screening in the wake of the U.S. Food and Drug Administration’s approval in December of Spinraza (nusinersen), the first treatment approved for a broad range of SMA patients. The addition of SMA to Texas’ newborn screening list…

With August recognized as SMA Awareness Month, this year the spinal muscular atrophy (SMA) community is focused on promoting nationwide newborn screening. Since 1996, Cure SMA has coordinated efforts to give the SMA community a specific time of year to think about the latest advancements and to balance what still…

The national nonprofit spinal muscular atrophy (SMA) support and advocacy organization Cure SMA has launched a grassroots campaign to have required newborn-screening for SMA in every state. The campaign was announced at the 2017 Annual SMA Conference held June 29-July 2 in Orlando, Florida. It was attended by…

The SMA community is buzzing with the news that spinal muscular atrophy has been nominated to be included on the RUSP. RUSP stands for Recommended Uniform Screening Panel and is a list of diseases and conditions that babies are screened for at birth in the U.S. The list currently includes 34 core conditions…

The U.S. Department of Health and Human Services; Advisory Committee on Heritable Disorders in Newborns and Children will review spinal muscular atrophy (SMA) for inclusion in the agency’s Recommended Uniform Screening Panel (RUSP). The application, prepared and submitted by a newborn screening working group involving staff and members of Cure…

Spinal muscular atrophy (SMA) could soon be on the Recommended Uniform Screening Panel (RUSP) list thanks to a concerted effort by Cure SMA through its Newborn Screening Coalition. MORE: Newborns in North Carolina to receive free screening for SMA. A review committee for the RUSP will look…