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

Friday, February 9, 2018 Child Health News
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Recommendation will help promote life-saving treatment of the leading genetic cause of death for infants under two years of age.

CHICAGO, Feb. 8, 2018 /PRNewswire/ -- The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)

today recommended that newborn screening for spinal muscular atrophy be implemented nationwide. The recommendation now goes to Health and Human Services Secretary Alex Azar for final approval.

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in the gene survival motor neuron 1. 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. On average in the US, a baby with SMA is born each day.

"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 we have an historic opportunity to change that. We look forward to Secretary Azar's speedy approval of this recommendation," said Jill Jarecki, PhD, chief scientific officer of Cure SMA, a national non-profit organization that supports research and advocacy for SMA.

In clinical trials for Spinraza, which was approved by the FDA in December 2016, infants treated before showing symptoms gained more motor milestones than those treated after showing symptoms. The most severe forms of SMA cause rapid motor neuron loss, providing a small window for optimal treatment—an opportunity often lost due to the diagnostic delays that many families experience.

At the hearing, Elizabeth Moore of Forney, Texas, testified in support of screening. Her daughter, Mary, was diagnosed with SMA and received treatment two weeks after birth. The family knew of their risk because their older son, William, was diagnosed with SMA in 2011. "My daughter laughs when I tickle her. She dances to music. She plays 'mommy' and takes excellent care of her baby dolls. She takes ballet classes with her peers, splashes in her baths, and can empty any cabinet in record time. And whenever she slows down for a minute, she asks for a hug and gives the biggest in return; then, she calls me 'mama' and tells me that she loves me," said Moore.

"William has never done any of these things. He doesn't get to interact with his peers or play independently. He's never said 'mama' or 'I love you.' He has never had the ability to give a hug. Every time Mary expresses herself, I wonder what William would have been like if he had that opportunity."

Cure SMA and the SMA Newborn Screening Coalition submitted the recommendation of SMA to the ACHDNC in February 2017. In May 2017, the committee voted to move that nomination into evidence review, a nine-month process that culminated with today's vote.

Three states—Utah, Missouri and Minnesota—have already adopted permanent screening for SMA, and a number of other states are considering permanent screening. "Today's recommendation is an important step, but it is ultimately up to each state to implement that recommendation. We look forward to continuing to work with our state and federal partners, until all babies born with SMA have the opportunity to receive timely, life-saving treatment," said Jarecki.

About Cure SMA and the SMA Newborn Screening Coalition

Cure SMA is dedicated to the treatment and cure of spinal muscular atrophy (SMA)—a disease that takes away a person's ability to walk, eat, or breathe. It is the number one genetic cause of death for infants.

Since 1984, Cure SMA has directed and invested in comprehensive research that has shaped the scientific community's understanding of SMA. Cure SMA has deep expertise in every aspect of SMA—from the day-to-day realities to the nuances of care options—and administers a wide-ranging roster of programs to support children and families affected by the disease. This includes the Annual SMA Conference, held each year for families affected by the disease, and for researchers and clinicians involved in treatment and care for SMA.

In addition to staff members from Cure SMA, the SMA Newborn Screening Coalition includes representatives from pharmaceutical companies Biogen, AveXis and Genentech/Roche.

Learn more at



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