Alabama Joins 42 US States in Screening Newborns for SMA
The Alabama Department of Public Health (ADPH) has announced that spinal muscular atrophy (SMA) is now among the list of disorders being routinely screened in newborns.
Testing infants for the disorder began on Feb. 14, the ADPH stated in a press release. Â
SMA was added to the state’s newborn screening panel on Dec. 15, 2021, bringing it into compliance with the standardized screening list developed by the national Recommended Uniform Screening Panel (RUSP) and the Advisory Committee on Heritable Disorders in Newborns and Children. Disorders are added to the list based on evidence that supports screening benefits, the state’s capacity to screen for the disease, and the availability of effective treatments.
Newborn screening involves testing for a range of disorders shortly after an infant’s birth. To perform the tests, health professionals prick the baby’s heel to collect a small amount of blood onto a newborn screening card, which is then tested for mutations that are known causes of diseases like SMA. In 95% of all cases, this disease is caused by the complete loss of exon 7 in both copies of the SMN1 gene, impairing the production of SMN, a protein essential for motor neuron and muscle health.
Diseases monitored via newborn screening vary by state in the U.S. Alabama is now among 43 states testing for SMA in newborns.
Approximately 1 in 10,000 babies are born each year with SMA, but depending on disease type – which determines severity – symptoms may not be evident in newborns. An early diagnosis allows for prompt access to treatment, increasing the likelihood of better outcomes later in life.
The ADPH’s Bureau of Clinical Laboratories, which conducts blood analyses for the state, screens approximately 60,000 babies each year. It reports detecting various disorders, including inherited, hormone and blood-related diseases, in 150 to 200 babies annually.
The ADPH will partner with the University of Alabama in Birmingham to diagnose and inform healthcare providers and children’s families of SMA cases found through screening. More information on the ADPH’s screening program is available on its website.
Three disease-modifying treatments are now approved for SMA — Biogen’s Spinraza, the first to be approved in late 2016; Zolgensma, a gene therapy by Novartis; and Roche’s Evrysdi, an oral therapy.
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