Iowa Adds SMA as Pilot Program for Newborn Screening

The Iowa Department of Public Health has begun a pilot effort to screen newborns for spinal muscular atrophy (SMA).

Babies born in Iowa are now being screened for more than 40 inherited disorders, with a goal of identifying conditions that, if caught early, can be treated or cured.

This program is being run in partnership with the North Dakota Newborn Screening Program, a press release stated. Its “pilot” designation means the state wants to ensure that laboratory and clinical followup services are working well before fully adopting this program.

Each screening is done via a heel prick to collect a blood sample, analyzed at the State Hygienic Laboratory at the University of Iowa. If a test indicates SMA, the infant’s primary care provider will be instructed to consult a neuromuscular specialist. That physician will conduct diagnostic SMA testing.

SMA screening tests for the presence of the SMN1, or survival motor neuron 1, gene. If results show that the gene is absent or markedly reduced in its signal, diagnostic testing and evaluation are needed. Information for parents is available here.

Announcement of Iowa’s pilot effort follows the recent expansion by the Illinois Department of Public Health to include SMA in its newborn screening program.

A report card issued by Cure SMA, a nonprofit that funds research and supports patients and families affected by this disease, indicates that two-thirds of all U.S. states are now screening for SMA.

“Since 2018, 31 states have implemented permanent or pilot SMA newborn screening programs, assuring that every baby born in their states is screened,” the report states. “This provides parents the information they need to make the right decisions about treatment care if their child is diagnosed with SMA.”

SMA was added to the federal Recommended Uniform Screening Panel for newborn testing (RUSP) in 2018. The RUSP is a list of disorders the U.S. Department of Health and Human Services recommends for states’ universal newborn screening programs. These disorders are chosen based on evidence that supports the potential benefit of screening, the ability of states to screen for them, and the availability of effective therapies.

Still, screening newborns for genetic diseases with therapies that can prevent progression has a way to go in the U.S. No state currently tests for all 35 disorders on the RUSP, and those that come close can be hampered by competing interests and obligations. Each state decides the scope of its own newborn screening program.

The recent arrival of disease-modifying treatments for SMA precipitated a push among scientists, physicians, and patient advocates to test babies worldwide for SMA.

SMA, an autosomal recessive neurodegenerative disease, affects one in every 8,000 to 10,000 people worldwide. It is characterized by progressive muscle weakness caused by the loss of specialized nerve cells — motor neurons — in the spinal cord and the part of the brain connected to the spinal cord. Because motor neurons control voluntary muscle movements, their loss leads to muscular weakness and atrophy.

Evidence supports that infants identified as having SMA who begin therapy early, ideally before symptoms appear, respond best. Two disease-modifying treatments for SMA, Biogen’s Spinraza and the gene therapy Zolgensma by Novartis‘ subsidiary AveXis, are currently approved, and a third — risdiplam by Roche — is under consideration for U.S. approval. Other medications aim to manage SMA symptoms or prevent complications.