EONIS™, a screening assay designed for spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in newborns, has recently received US Food and Drug Administration (FDA) approval, according to a press release.

SMA is 1 of the leading genetic causes of death among infants; the disease is characterized by progressive neuronal degeneration in the spinal cord and the brain stem nuclei, which can eventually lead to debilitating muscle atrophy and weakness, as well as respiratory failure. However, symptoms are not evident until 6 months of age in most patients. 

Currently, there are 3 SMA-specific therapies approved by the FDA, which have led to a dramatic improvement in the prognosis of patients with SMA. Evidence shows that these therapies tend to have a bigger impact on disease progression and patient quality of life when started before symptom onset. 

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Therefore, there is high interest in developing tools and methods to improve newborn screening for SMA. The 2018 addition of SMA to the Recommended Uniform Screening Panel of the US Department of Health and Human Services illustrates this point. 

EONIS is a system developed by PerkinElmer with the capacity of screening for SMA and SCID at the same time with a single dried blood sample using PCR technology. According to the manufacturer, detection is achieved through 5 steps: sampling, punching, DNA extraction, amplification, and data analysis with the aid of dedicated analysis software.

“This authorization is a major milestone for newborn screening in the United States. Labs across the country will be able to access technologies that detect SMA and SCID, and provide them the confidence that every test meets regulatory, manufacturing and accreditation requirements,” said Petra Furu, general manager of reproductive health at PerkinElmer.

The system had previously received marketing approval in Europe before its approval by the FDA.


PerkinElmer announces its EONIS SCID-SMA Kit is first to receive marketing authorization by US FDA for SMA screening in newborns. Press release. PerkinElmer; November 14, 2022.

Boemer F, Caberg J, Beckers P, et al. Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium. Sci Rep. Published online October 14, 2021. doi:10.1038/s41598-021-99496-2