SMA newborn screening covers 7% of babies worldwide: Study
Screening programs available in 33 countries, survey finds
Newborn screening (NBS) programs for spinal muscular atrophy (SMA) were available in 33 countries as of the beginning of 2024, including the U.S. and most countries in the European Union.
That’s according to a survey that gathered responses from experts in 80 countries. According to the researchers, “projections indicate an estimated 18% screening rate by 2028.”
In 2023, more than 1,170 newborns had been diagnosed with the disease through NBS. At least one disease-modifying therapy was available in 62 countries, with 39 having available all three approved medications.
“Efforts for equitable access to standard of care, NBS, and disease-modifying therapy should be pursued by all stakeholders,” the scientists wrote.
The survey results were reported in a study, ”Newborn screening programs for spinal muscular atrophy worldwide in 2023,” published in the Journal of Neuromuscular Diseases.
SMA newborn screening and early treatment
SMA is caused by mutations in the SMN1 gene that result in little or no production of the survival motor neuron protein (SMN), leading to the progressive loss of motor neurons, the nerve cells that control voluntary movements. SMA symptoms include muscle weakness and wasting.
Early diagnosis and early treatment with the disease-modifying therapies Spinraza (nusinersen), Evrysdi (risdiplam), and Zolgensma (onasemnogene abeparvovec) have significantly improved patient outcomes.
A 2021 survey in 82 countries revealed that eight — the U.S., Japan, Russia, Canada, Australia, Germany, Belgium, and Italy — had NBS programs for SMA that screened some newborns, while Taiwan screened all newborns. At that time, fewer than 2% of newborns worldwide were screened for the disease.
The researchers evaluated progress in the implementation and execution of SMA NBS programs from 2021 to 2023, sending a questionnaire to experts in 143 countries. A total of 86 experts from 80 different countries responded, covering almost all European countries and 80% of high-income countries.
Experts from 31 countries reported that NBS programs had been implemented in their countries for SMA, 22 more than in 2021. In 21 countries, at least half of all newborns were screened for SMA.
Based on the approximately 130 million births estimated by the United Nations for 2021, about 7% (roughly 10 million) newborns were being screened for SMA. In 2023, 1,176 newborns with SMA were diagnosed through these programs.
Many experts reported that joint efforts with patient advocacy groups helped implement NBS programs, while lack of cooperation with the authorities and bureaucracy were common challenges.
Experts from 17 of the 45 countries without NBS programs expected such programs could be implemented in the future. Two countries, Switzerland and Luxembourg, implemented programs in 2024. No plans were reported by the respondents from 24 countries.
For those countries without plans to implement NBS programs for SMA, experts said a lack of financial resources and SMA not being considered a healthcare priority were the main obstacles. Organizational issues were the main challenge in countries that had such plans.
Screening for carriers, people who inherit one copy of the mutated gene and one healthy copy and can pass the condition to their children, was available in three countries with NBS programs. In five, it was available for people covered by health insurance. In five more, it was available to those who could pay for carrier screening.
At least one disease-modifying therapy was available in 62 countries. All three treatment options were available in 39 countries, two were available in 14 countries, and one in nine countries. In 18 countries, none of these therapies was available.
“The data shows a significant increase in the implementation of newborn screening programs since 2021,” the researchers wrote. “The experts are still expressing a strong need for equitable access to standard of care for all the patients globally.”
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