The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), a federal committee that oversees newborn screening, voted today to add spinal muscular atrophy (SMA) to the national list of disorders recommended for screening at birth.

Following today’s vote, the Secretary of Health and Human Services (HHS) will make a final decision on whether to add SMA to the Recommended Uniform Screening Panel (RUSP), a list of diseases that ACHDNC recommends be screened for in newborns. If the Secretary elects to add the disorder, each state must then take action to add SMA to their respective newborn screening panels. The process and timing vary from state to state.

SMA is a neuromuscular disease that is the leading genetic cause of death for infants under 2 years old. SMA is caused by defects in a gene called Survival Motor Neuron 1 (SMN1). In a healthy person, this gene produces the SMN protein, which is critical to the function of the nerves that control muscles. Without this protein, nerve cells cannot properly function and they eventually die, leading to debilitating and often fatal muscle weakness.

With the U.S. Food and Drug Administration’s approval of Spinraza in December 2016, and with other promising SMA treatments making their way through development and testing, it’s critically important to ensure all babies in the United States are screened for SMA. Spinraza is the first treatment option to impact the underlying cause of the disease, and studies have indicated that it may be most effective when administered early in the disease process.

What is newborn screening?

Newborn screening (NBS) is a public health program in the United States that aims to identify newborns who have certain serious and life-threatening genetic diseases that can be treated, and for which earlier treatment may contribute to better outcomes.

Currently, all newborn babies in the United States are screened for approximately 30 different disorders — the number varies by state. Early detection allows for earlier treatment, which can prevent or dramatically reduce the symptoms of these diseases.

In order to conduct the screening, a small blood sample is taken from the baby right after birth. This sample typically is obtained with a heel stick (a prick to the baby’s heel) and is then tested for a number of disorders.

How is the NBS program managed?

Newborn screening is regulated at both the federal and state levels. The ACHDNC, which consists of clinicians, researchers, public health experts, patient advocates, disease experts and newborn screening leaders, examines data and evidence on each disease that is submitted for consideration. It then makes formal recommendations on whether a specific disorder should be added to the RUSP.

Because NBS is a public health program that falls under the authority of the individual states, the final decision on whether to test for a specific disease is up to each state. These decisions often rely heavily on the expert recommendations contained in the RUSP. If the Secretary of HHS makes the final decision to add SMA to the RUSP, it will then be up to each state to determine whether it will follow the recommendation and add SMA to its individual panel of disorders screened for at birth and. Each state that decides to add SMA will then be responsible for getting the test up and running within the state. For a current list of conditions tested for in your state’s newborn screening panel, click here.

Until today, Pompe disease was the only neuromuscular disorder included on the RUSP. To learn more, more, read A Good Beginning: Newborn Screening for a Q&A with MDA Chairman of the Board R. Rodney Howell, M.D., one of the world’s leading experts on newborn screening.

How is MDA involved in making this happen?

MDA has been engaged in and committed to newborn screening for neuromuscular disorders for many years. Together with Cure SMA, MDA has worked to engage additional stakeholders including researchers, clinicians, industry, and policy makers — with the goal to provide screening for SMA to all newborns in the United States.

Early last year, following the approval of Spinraza, as part of a newborn screening working group, MDA worked in partnership with Cure SMA and a panel of SMA clinicians and researchers to submit an application to the ACHDNC. The nomination was accepted into evidence review in May 2017.

Both MDA and Cure SMA formally testified to ACHDNC. You can review MDA’s comment to the committee about the importance of newborn screening for SMA, Duchenne muscular dystrophy, and other neuromuscular disorders where early intervention is critical.

MDA is proud to join in advocating for life-changing public policies like these, and we are pleased to collaborate with other organizations and stakeholders in the disability com¬munity to ensure the passage and imple¬mentation of policies and programs supporting the families MDA serves.

What does today’s vote mean?

Many families whose children have SMA often endure a long and difficult diagnostic odyssey as doctors work to determine a diagnosis. Because newborn screening identifies disorders early on, often before symptoms appear, it eliminates the diagnostic odyssey in connection with the disorders it covers. If SMA is added to the screening protocol, children may be able to begin immediate treatment with new drugs like Spinraza, the first treatment for SMA that can improve both lifespan and quality of life.

Newborn screening will help ensure that babies born with SMA are identified, so that they can have the opportunity to benefit from early treatment and intervention. Such testing can also provide families with a genetic diagnosis — information that often is required to determine whether their child is eligible to participate in promising clinical trials.

MDA’s support of the clinical care for infants identified in newborn screening is paramount. Once these babies are diagnosed, MDA Care Centers across the United States can play a key role in confirmatory diagnoses, treatment and long-term care and follow-up.

What other efforts is MDA making in NBS?

Because early diagnosis and intervention are critical in treating progressive neuromuscular disorders, MDA is committed to pursuing newborn screening for diseases under our umbrella.

In addition to Pompe disease (already on the RUSP) and SMA, MDA is working to ensure the addition of Duchenne muscular dystrophy (DMD), along with other neuromuscular diseases as they become eligible, to the RUSP.

MDA also plays an important role in educating and supporting providers and families about the NBS program.

While today’s announcement is a significant step forward, there is still work to be done, which is why convening disciplinary experts to discuss best practices and share common goals is something that MDA will continue to support. Newborn screening is an area of focus at MDA’s upcoming 2018 Clinical Conference, March 11-14, in Arlington, Va.

MDA is working to support newborn screening for neuromuscular diseases by continuing to lead the charge in funding research, engaging in public policy and advocacy efforts, and collaborating with stakeholders in the neuromuscular disease community. In addition, MDA’s nationwide network of Care Centers exists to provide care to infants from day one as they are identified through the screening process, and serve as sites for continued clinical trial development and research.