Cure SMA Launches Newborn Screening Coalition
As SMA drug development continues to move forward, Cure SMA is focused on ensuring that approved therapies are accessible to our entire community. This includes making therapies widely available at clinical sites across the US, and facilitating insurance coverage. In addition, newborn screening is another way to ensure effective, prompt, comprehensive delivery of SMA treatments.
Mindful of these new challenges, Cure SMA has launched the SMA Newborn Screening Coalition, a complement to our newborn screening working group. Newborn screening requires both federal-and-state-level advocacy. In order for a condition like SMA to become part of routine newborn screening, it must be submitted to the federal Recommended Uniform Screening Panel (RUSP). Once the RUSP application is approved, each individual state must act to implement that recommedation.
The working group is comprised of internal and external SMA experts, working on nominating SMA for inclusion on the RUSP. The SMA Newborn Screening Coalition is working on the advocacy efforts that are needed at the federal and state level, to promote implementation of newborn screening for SMA once it is added to the RUSP. The Coalition includes representatives from pharmaceutical partners 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.
By adding SMA to routine newborn screening, we can eliminate the long and difficult diagnostic delays - currently ranging from an average of three months for SMA type I, to more than three years for SMA type III - that many families experience. It will also allow infants to begin receiving treatment even before showing symptoms, when research in human and mouse models suggests it may be most effective.
The coalition has already begun work on several important aspects of this project, including:
- Testifying before the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), part of the US Department of Health and Human Services.
- Ensuring that proper state pilot screening is taking place, in order to support the RUSP application.
- Compiling and preparing this pilot data as it is collected.
- Working with Congress to secure the appropriations needed to fund newborn screening for SMA.
- State-level advocacy efforts, including training and materials for families who plan to advocate for newborn screening in their respective states.
Testimony Before the Advisory Committee on Heritable Disorders
As part of this work, representatives from the SMA community have had regular opportunites to testify before the SACHDNC regarding the impact of SMA and the importance of newborn screening. In November 2016, Kristen Lasko, mother of a son with SMA type I, testified on behalf of the community. In February 2017, Amy Medina and Dr. Tom Crawford also testified on behalf of the community. Amy is the mother of two sons with SMA type I, and Dr. Crawford is neurologist at Johns Hopkins and Cure SMA Scientific Advisory Board Member.
Earlier opportunities included the May 2016 testimony of Spencer Perlman, a Cure SMA board member, and in September 2016 testimony of Shannon Zerzan, mother of a son with SMA type III.