Spinal muscular atrophy (SMA) has been added to the Recommended Uniform Screening Panel (RUSP) for newborns in the United States, opening the door to newborn screening for SMA at the state level, the Muscular Dystrophy Association (MDA) reports on its website.
The decision adding SMA to recommended screenings for serious genetic diseases in newborns was made by Alex Azar, U.S. Secretary of Health and Human Services (HHS), the MDA said in the news article written by Kristin Stephenson. Such tests are limited to diseases with treatments — which SMA gained with the approval of Spinraza (nusinersen, by Biogen) in late 2016.
Each state decides whether to include a specific disease in its required screenings, but often rely on recommendations contained in the RUSP.
Detecting disease at very early ages allows for earlier treatment, possibly preventing serious damage due to disease progression.
“SMA now joins Pompe Disease as the second disorder in MDA’s program for which our federal advisory committee recommends all of the 4 million babies in our country be tested,” R. Rodney Howell, the group’s board chairman, said in the article.
The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) — which includes clinicians, researchers, public health experts, patient advocates, disease experts and newborn screening leaders — decided in favor of adding SMA to the screening panel in February.
The MDA, an organization representing over 40 different disorders that include SMA, commended Azar and his agency on this decision. But it also cautioned that more work needs to be done, including implementing newborn screening in states and making sure of sufficient program funding at the federal and state level.
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A recent population-based study conducted in the state of New York illustrated the feasibility and utility of SMA newborn screening.
At age 13 days, the baby girl was enrolled in the NURTURE trial (NCT02386553), which is testing the effectiveness and safety of treatment with Spinraza (nusinersen, by Biogen) — the only U.S. Food and Drug Administration-approved treatment for SMA — and comparing outcomes with the disease’s natural course. The baby was treated with Spinraza six times over a first year, and she was found on follow-up visits to have achieved all age-relevant developmental milestones.
Columbia University researchers that conducted the New York study joined in support that SMA be added to RUSP.
“The approved [SMA] medication is truly life-saving, and even more effective treatments are on the horizon,” Howell said.
Other potential treatments are being investigated for SMA, including the gene therapies AVXS-101 (by AveXis,) and RG7916 (by Roche and Genentech, in collaboration with PTC Therapeutics and the SMA Foundation).
Howell discusses newborn screening in a Q&A from 2017 posted on the MDA’s website.