The importance of early SMA detection through newborn screening

Spinal muscular atrophy (SMA) is a devastating disease with significant consequences for those affected, taking away a person’s ability to walk, eat and ultimately breathe.

While many strides have been made by the SMA community, there continues to be a critical delay in SMA diagnosis, and currently only infants with a family history of SMA are proactively being tested for the disease.

Early diagnosis could potentially benefit infants who start treatment before significant decline occurs and treating babies early (at or near birth) can potentially result in better outcomes compared to after symptom onset.

So where do things stand with early diagnosis?

Currently, in the United States, with the support of Cure SMA, a prominent patient group, the leading national public health institute, US Centers for Disease Control and Prevention, confirmed a cost-effective newborn screening test for SMA. Pilots have been established with the goal of demonstrating the success of adding SMA to the newborn screening panel – the series of tests performed with a small blood sample taken from a newborn’s heel.

In May 2017, the U.S. Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children also announced that it would consider adding SMA to the Recommended Uniform Screening Panel (RUSP), a nationwide panel of blood tests that screens for certain devastating genetic conditions that may not otherwise be diagnosed at birth.

Recently, Missouri became the first state to expand its newborn screening requirements to include two additional genetic diseases – including SMA – paving the way for similar legislation across the country.

In the European Union (EU), the number and types of diseases screened vary widely from country to country.  Guidelines that would harmonize newborn screening standards would complement country pilot projects to demonstrate patient outcome benefits of early treatment.

With August being SMA Awareness Month, we support the SMA community in their call for early diagnosis.