Spinal Muscular Atrophy Nomination for RUSP Newborn Screening List Under Review


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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 SMA and the Muscular Dystrophy Association — along with a panel of SMA clinicians and researchers — follows the recent approval by the U.S. Food and Drug Administration (FDA) of Biogen’s treatment for SMA, Spinraza (nusinersen).

“We are pleased that the committee has taken this significant first step toward recommending SMA for inclusion on the RUSP,” Jill Jarecki, Cure SMA’s chief scientific officer, said in a press release. “Adding SMA to the federal guidelines would help ensure that all babies born with SMA receive the best chance for prompt, effective treatment.”

The advisory committee will now review evidence submitted along with the RUSP application. This process will consider the U.S. development and progression of SMA therapies, as well as the existence of accurate diagnostic tests for the disease that could be used in small infants.

Once officials complete their review, the committee will make a recommendation to the secretary of Health and Human Services. It could take at least a year before SMA is finally added to the RUSP list. During this process, the SMA Newborn Screening Coalition will continue to promote SMA screening at both the federal and state level, while supporting federal appropriations for SMA screening.

“As the committee continues their review, we will continue our advocacy for SMA screening implementation,” Jarecki said. “Thank you again to our working group for their hard work on the nomination.”

The SMA Newborn Screening Coalition comprises officials from two pharmaceutical companies, Biogen and AveXis, and from Cure SMA. The process has received guidance from the District Policy Group, a firm that provides advocacy support to Cure SMA.