Twice this year, Cure SMA has had the opportunity to testify before the federal Advisory Committee on Heritable Disorders on the need for newborn screening for SMA. This committee, part of the Health Resources and Services Administration (HRSA), an agency of the U.S. Department of Health and Human Services, determines which conditions will be added to the Recommend Uniform Screening Panel (RUSP). This is a panel of diseases the federal government recommends to the states for newborn screening.
In May, Spencer Perlman, a Cure SMA board member, testified about the importance of newborn screening. Earlier this month, Shannon Zerzan, a mom of a son with SMA, also testified on behalf of Cure SMA. Both testimonies focused on the need to reduce diagnostic delays, the progress of the SMA drug pipeline that has brought us to the cusp of approved treatments, and the importance of early administration of that treatment.
One primary goal of this testimony was to lay the groundwork for our Newborn Screening Initiative, launched earlier this year in partnership with MDA. The initiative includes a working group comprised of members of Cure SMA’s Board of Directors, staff, Scientific Advisory Board, and external SMA experts.
Working Toward Newborn Screening for SMA
Once a treatment is approved by the FDA, newborn screening for SMA would allow individuals to begin receiving treatment immediately, even before showing symptoms.
In addition, adding SMA to newborn screening would eliminate the diagnostic delays that many families face. Research has shown that these delays range from an average of 3.6 months after symptom onset for those with SMA type I, up to an average of 43.6 months (more than 3 ½ years) for those with SMA type III.
Because the FDA review of a treatment can take 8-12 months, and because the process for adding a condition to the RUSP is quite complex and requires significant data packages in itself, it is important that the necessary work on newborn screening take place alongside the FDA review of a treatment.
This initiative is a continuation of Cure SMA’s longstanding work in this area. In 2008, Cure SMA and other partners from the SMA community submitted an application to have SMA added to the RUSP. In response, the committee requested additional data from statewide pilot screening programs. This data, along with the continued progress of the SMA drug pipeline, will be crucial in moving the application forward.
How Newborn Screening is Implemented for SMA
In order to have a condition added to the RUSP, the committee must have pilot screening data from one or more state labs, validating the diagnostic test and its predictive capacity. The committee must also see that there is an approved treatment a disease, and that there is evidence that pre-symptomatic treatment is effective. Once a condition has been added to the RUSP, screening must also then be implemented on a state-by-state basis.
Cure SMA, MDA, and the advisory group have already begun work on several important markers that must be reached in order to have SMA added to the RUSP. These include:
- Testifying before Advisory Committee on Heritable Disorders
- Ensuring that proper state pilot screening is taking place, in order to support the application
- Compiling and preparing this pilot data as it is collected
- Creating relationships at the federal and state level
- Preparing the formal application to have SMA added to the RUSP
- Working with Congress to secure the appropriations needed to fund newborn screening for SMA
Eliminating Barriers to Treatment
Our primary goal is to get a treatment approved for as many people as possible, as quickly as possible. And once that treatment is approved, our goal is to make sure that treatment is administered in a way that will provide the most benefit to our community—from newborns to adults.
Newborn screening would eliminate the barrier of diagnostic delays, which can prevent individuals from receiving timely treatment. In addition, a number of initiatives we are working on—including initiatives on insurance/coverage and ensuring broad drug labels—will also help remove barriers to treatment access for all ages, stages, and types of SMA.
In the coming months, we will provide additional updates on all of these initiatives, including newborn screening. In addition, many of these topics, as well as opportunities for community participation, will be covering in our upcoming series of educational modules.