SMA Screening Now Available to 87% of Newborns in US

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by Mary Chapman |

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Screening for spinal muscular atrophy (SMA), the leading genetic cause of infant death, is now available to 87% of all babies born in the United States, according to Cure SMA.

The milestone was reached after Arizona and Louisiana began testing newborns for SMA this year, raising the number of states with the screening to 40.

Cure SMA conveyed the news in a Jan. 27 tweet: “Starting out 2022 strong! This month, Arizona and Louisiana officially begin screening newborns for spinal muscular atrophy. With these implementations, 87% of newborns in the U.S. are now being screened for SMA.”

This comes four years after SMA was added to the federal Recommended Uniform Screening Panel (RUSP).

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The nonprofit Cure SMA funds research and supports patients and families affected by the disease. It has been at the fore of efforts to have every state offer the screening. To date, it lists 10 states that do not screen for SMA: Oregon, Idaho, Nevada, New Mexico, Alaska, Hawaii, Alabama, South Carolina, Virginia, and New Jersey.

Newborn screening is a test performed on blood collected shortly after birth to look for mutations that are known causes of diseases like SMA. Screenings are conducted via a heel prick to collect a blood sample.

Early SMA detection means that babies can have access to prompt treatment — ideally before symptoms appear and irreversible damage occurs — increasing the likelihood of better future outcomes.

Early detection and diagnosis and subsequent treatment can significantly increase breathing and muscle control as well as the ability to move independently. Between 50% and 60% of children born with spinal muscular atrophy can never sit up by themselves and, without therapy, don’t survive beyond age 2.

Three disease-modifying SMA treatments are available in the U.S. and some other countries: Evrysdi (risdiplam), developed by Roche and Genentech in collaboration with PTC Therapeutics and the SMA Foundation; Spinraza (nusinersen), by Biogen; and Zolgensma, a gene therapy developed by AveXis, now a Novartis company.

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SMA was added in 2018 to the RUSP, a list of conditions the U.S. Department of Health and Human Services recommends for state universal screening programs. These disorders are chosen based on studies that support the prospective benefit of testing, the ability of states to conduct screening, and the availability of effective treatments.

Still, no state currently screens for all 35 disorders on the RUSP, and those that nearly do are hamstrung by competing interests and responsibilities. It’s up to each state to decide what to include in its newborn screening program.

SMA is an autosomal recessive neurodegenerative disorder that affects one in every 8,000 to 10,000 individuals globally. It is characterized by progressive muscle weakness caused by the loss of motor neurons in the spinal cord and the portion of the brain that’s connected to the spinal cord. Because motor neurons control voluntary muscle movements, their loss leads to muscular weakness and atrophy.