SMA Advocates Testify at Federal Newborn Screening Meeting

On Wednesday, November 8, advocates testified at the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) in support of spinal muscular atrophy newborn screening efforts at the federal division of Health and Human Services.

The advisory committee reviews conditions for addition to the Recommended Uniform Screening Panel (RUSP). The meeting included an update on their review of the nomination of SMA to the RUSP.

At the meeting, advocate Cheryl Yoder—mom of five kids, two of whom are affected by SMA—testified on behalf of the SMA community. Dr. Darryl De Vivo, Sidney Carter Professor of Neurology and Pediatrics, Director of the SMA Clinical Research Center and Director Emeritus of the Pediatric Neurology Service at the Columbia University Medical Center in New York City, and Maria Spencer, Vice President of Policy and Advocacy for Cure SMA, also testified in support of the Cure SMA nomination.

The testimony focused on the importance of early detection and early treatment to achieve the best outcomes for infants affected by SMA. Dr. De Vivo spoke on his experience treating over 250 SMA patients, and participating in clinical trials for Spinraza, including dosing the first human with Spinraza in 2011. Dr. De Vivo also participated in Nurture, the trial testing Spinraza in pre-symptomatic infants. He contrasted his earlier experiences in caring for those affected by SMA, when no treatment was available, with the current opportunity to offer treatment even before infants begin showing symptoms.

Cheryl Yoder spoke on her family’s first experience of SMA, when their daughter was diagnosed with SMA type I in 2012, comparing that to their current experience with a son who is enrolled in the Nurture trial. She also highlighted the importance of using newborn screening to reduce the “diagnostic odyssey” that so many affected by SMA face.

Maria Spencer encouraged the committee to approve SMA for screening under the current guidelines, which require the committee to approve conditions when they are (1) identifiable within one to two days after birth; (2) have a screening test available; (3) benefit from early detection and intervention; and (4) have an effective treatment.

This is the last meeting and update before the Advisory committee votes on the nomination in February. This vote will be significant because, if the Secretary of Health and Human Services approves the nomination, HHS will send notices to states that support the addition of SMA to state newborn screening panels. Several states require the federal recommendation before they will consider SMA to their newborn screening program.

For more information on how you can help advocate in your state, email [email protected].

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