Newborn screening test for SCID gets FDA approval
Credit: Vera Kratochvil
The US Food and Drug Administration (FDA) has approved marketing of the EnLite Neonatal TREC Kit, the first screening test for severe combined immunodeficiency (SCID) in newborns.
Using a few drops of blood from the newborn’s heel, which is dried on filter paper, the EnLite Neonatal TREC Kit can determine whether T-cell receptor excision circles (TREC) DNA is low or missing from the newborn’s blood.
Newborns with SCID typically have no or low amounts of TREC DNA compared to healthy infants.
Additional testing is required to obtain a SCID diagnosis once the EnLite Neonatal TREC Kit has suggested a child may have SCID.
“SCID is a fatal disease that can be treated with early intervention, including screening,” said Alberto Gutierrez, PhD, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health.
“For the first time, the FDA is allowing the marketing of a newborn screening test that will enable states to incorporate an FDA-reviewed SCID test into their standard newborn screening panels and allow earlier identification for affected individuals.”
The FDA reviewed the EnLite Neonatal TREC Kit through its de novo classification process, a regulatory pathway for some novel, low- to moderate-risk medical devices that are not substantially equivalent to an already legally marketed device.
The FDA’s review included a clinical study of approximately 6400 blood spot specimens from routine screening of newborns, 17 of which had a confirmed SCID diagnosis. The EnLite Neonatal TREC Kit correctly identified all 17 SCID cases.
The agency also evaluated the test’s ability to accurately distinguish low TREC DNA numbers that would be observed in newborns with SCID from high TREC DNA numbers that would be present in healthy newborns. The FDA found the EnLite Neonatal TREC Kit could adequately detect very low TREC DNA values that are associated with SCID.
The EnLite Neonatal TREC Kit is not intended for use as a diagnostic test or to screen for SCID-like syndromes, such as DiGeorge syndrome or Omenn syndrome. Likewise, it is not intended to screen for less acute SCID syndromes, such as leaky SCID or variant SCID.
The EnLite Neonatal TREC Kit is manufactured by Wallac Oy, a subsidiary of PerkinElmer, at its facility in Turku, Finland. PerkinElmer is based in Waltham, Massachusetts. 