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RUSP Nomination for SMA Accepted into Evidence Review

ELK GROVE VILLAGE, Ill. - May 12, 2017 - EntSun -- The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), part of the U.S. Department of Health and Human Services, today announced that they have accepted spinal muscular atrophy into the review process for the Recommended Uniform Screening Panel (RUSP). The RUSP is a list of conditions that all newborns in the U.S. are recommended to be screened for.

Spinal muscular atrophy is a neuromuscular disease that is the leading genetic cause of death for infants under two years of age. SMA is caused by a mutation in the gene survival motor neuron 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.

"We are pleased that the committee has taken this significant first step toward recommending SMA for inclusion on the RUSP," said Jill Jarecki, PhD, Cure SMA's chief scientific officer. "Adding SMA to the federal guidelines would help ensure that all babies born with SMA receive the best chance for prompt, effective treatment. As the committee continues their review, we will continue our advocacy for SMA screening implementation. Thank you again to our working group for their hard work on the nomination."

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The submission of SMA to the RUSP follows the December 2016 approval of Spinraza, marketed by Biogen, the first-ever FDA-approved treatment for the disease, as well as other advances in the SMA drug pipeline.

The RUSP application for SMA now moves into evidence review. Once the evidence review is completed, the committee will make a recommendation to the Secretary of Health and Human Services, who will determine whether SMA will be added to the RUSP. The full process is expected to take a year or more.

During the RUSP review process, the SMA Newborn Screening Coalition will continue to work at both the federal and state level, supporting federal appropriations for newborn screening, and advocating for states to take quick action to screen for SMA. Each state administers its own newborn screening program, meaning that states can choose to implement SMA screening in advance of the RUSP decision.

The RUSP application was prepared and submitted by a newborn screening working group comprised of staff and members of the board of directors of Cure SMA, representatives from Muscular Dystrophy Association, and a panel of SMA clinicians and researchers.

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Members of the SMA Newborn Screening Coalition include representatives from pharmaceutical companies Biogen and AveXis, and staff members from Cure SMA, with guidance from representatives from the District Policy Group, a DC-based public policy firm that provides advocacy support to Cure SMA.

To learn more, visit www.curesma.org.

Cure SMA

Source: Cure SMA

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