The request came in a meeting between the advocates and the government’s Advisory Committee on Heritable Disorders in Newborns and Children on Nov. 8. The committee considers which conditions should be added to the Department of Health and Human Services’ Recommended Uniform Screening Panel list.
Although each of the 50 American states makes a final decision on which genetic conditions newborns should be screened for, a condition’s addition to the federal list increases the chance a state will screen for it.
Cheryl Yoder, who has two children with SMA, took the lead role in testifying before the advisory committee. Others who testified included Dr. Darryl De Vivo, director of the SMA Clinical Research Center at Columbia University, and Maria Spencer, vice president of policy and advocacy at Cure SMA.
De Vivo spoke about treating more than 250 patients and participating in clinical trials of Biogen’s Spinraza (nusinersen) – the first therapy that the U.S. Food and Drug Administration has approved for the disorder. He noted how much better off patients are now that a therapy is available. In fact, these days he can begin treating infants even before they start showing symptoms.
Yoder spoke about the difference in outlook their family had between the SMA diagnoses of their daughter and son.
Their daughter was diagnosed in 2012, at a time when no treatments were on the horizon. Just three years later, in 2015, her son was able to take part in a Phase 2 clinical trial (NCT02386553) of nusinersen, the name that Biogen used for Spinraza before the FDA approved it in December 2016.
Yoder also told the advisory committee how important newborn screening would be in improving what she called the “diagnostic odyssey” that so many parents experience before they obtain an accurate diagnosis for their youngster.
Spencer encouraged the committee to consider approving SMA for screening under the federal government’s current guidelines. Those guidelines require the committee to approve conditions when they are (1) identifiable within one or two days after birth, (2) when there is a screening test available, (3) when there is a clear benefit from early detection and intervention, and (4) when there is an effective treatment.
This was the advisory committee’s final hearing on checking for SMA before it votes in February 2018 on whether to add SMA to its newborn screening registry.
If the committee recommends that it be added, and the Secretary of Health and Human Services approves the recommendation, the government will then notify states about its decision. Some states require the notification before they can consider including SMA in their newborn screening programs.
If you would like to help Cure SMA by becoming an advocate in your state, please email [email protected].