Advisory Committee on Heritable Disorders in Newborns and Children Recommends Nationwide Newborn Screening for Spinal Muscular Atrophy

By Cure SMA | Published On February 9, 2018

Advisory Committee on Heritable Disorders in Newborns and Children Recommends Nationwide Newborn Screening for Spinal Muscular Atrophy

The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) today recommended that newborn screening for spinal muscular atrophy be implemented nationwide.

This decision is an important step toward our goal of having every baby born in the United States screened for SMA. The recommendation now goes to Health and Human Services Secretary Alex Azar for final approval.

We are extremely grateful that, after a thorough review of the evidence, the committee has confirmed that universal newborn screening and early treatment will change the lives of babies born with SMA. SMA is currently the leading genetic cause of death for infants under two years of age, but newborn screening presents an historic opportunity to change that. We look forward to Secretary Azar’s speedy approval of this recommendation.

In testimony at today’s hearing, Beth Moore spoke about her family’s experience with two of her children. William and Mary both have SMA, but Mary was able to receive early treatment because the family knew of their risk after William’s diagnosis. “Alongside everything else that William has done, he may have saved his little sister’s life. If we didn’t have him, we wouldn’t have thought to check [Mary],” Beth shared. “Mary has not only outlived the typical life expectancy for SMA type I, but is thriving. She talks, walks, eats, and breathes on her own. She is our miracle and offers hope to so many in the SMA community.”

Early last year, following the approval of Spinraza, Cure SMA and the SMA Newborn Screening Coalition prepared and submitted a nomination of SMA to the ACHDNC. The nomination was accepted into evidence review in May 2017. That nine-month evidence review process culminated in today’s vote.

During the review, Cure SMA and the coalition have supported the nomination through public testimony given by Cure SMA staff and SMA families, and advocacy for adequate federal funding of newborn screening.

What Happens Next

We will work alongside our advocates to push for a quick approval by HHS Secretary Azar. This includes working with our partners in the House of Representatives and Senate to encourage Secretary Azar to act. By law, the Secretary has 120 days to approve the recommendation.

It is also vital that we continue advocating in all 50 states, since the final decision on implementation rests with each state.

If you have not already, please sign up to be an advocate. When you sign up, we’ll notify you of opportunities to advocate in your state or district.

Be sure to visit our website or follow us on Facebook or Twitter for updates. As we celebrate this important step and look forward to Rare Disease Day on February 28, we’ll be sharing ways that you can get involved, advocate, and voice your support for newborn screening.

Working together, we can save the lives of babies born with SMA.

Thank You

We would specifically like to thank and acknowledge the families who have testified in support of this nomination. Thank you to Kristen Lasko, Amy Medina, Beth Moore, Debra Schaefer, and Cheryl Yoder for sharing your stories. Thank you to Drs. Tom Crawford, Darryl DeVivo, and Kathy Swoboda, who also testified in support of the nomination.

We thank the committee for their careful consideration of the SMA nomination. We also thank the working group who assembled the nomination packet.

We thank our partners in the SMA Newborn Screening Coalition—Biogen, AveXis, and Genentech/Roche—for their support of this important issue.

Topics: Our Impact, Advocacy, Front Page News

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