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Spinal Muscular Atrophy Submitted to the Recommend Uniform Screening Panel

CHICAGO - March 6, 2017 - Rezul -- Cure SMA, a national non-profit dedicated to the treatment and cure of spinal muscular atrophy, in partnership with members of the SMA Newborn Screening Coalition, have announced that spinal muscular atrophy (SMA) has been submitted to the Recommended Uniform Screening Panel (RUSP).

Administered by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, part of the Department of Health and Human Services, the RUSP is a list of conditions that all newborns in the US 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.
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.

"Given the progress in SMA drug development, this is a unique opportunity for us to change the course of SMA for thousands of families," said Jill Jarecki, PhD, Cure SMA Chief Scientific Officer and one of the lead authors of the RUSP submission. "Up until now, families would be put through an often long and difficult diagnostic odyssey, only to be told that no treatments were available for their child's condition. If SMA is added to the RUSP, children will be able to begin immediate treatment, improving both lifespan and quality of life."

Research in both human and animal models suggests that treatment for SMA is most effective when it can begin before symptoms appear. In addition, many families face costly and difficult diagnostic delays, ranging from an average of 3.4 months in the most severe cases, to more than 3½ years in less severe cases.
Over 95 percent of SMA cases can be detected by a simple blood test. The test for SMA can be run concurrently with existing newborn screening tests, meaning that it would cost pennies per child.

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.

The activities of this working group are complemented by the broader efforts of the coalition, working on the federal and state advocacy efforts needed to fully support and implement the RUSP application. 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.

The committee will review the RUSP application, with first public comments scheduled for their May meeting. If approved, the recommendation would then be implemented on a state-by-state basis.

For more information, visit www.cureSMA.org.

Contact
Megan Lenz
***@curesma.org


Source: Cure SMA

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