FDA allows marketing of the first newborn screening test to help detect severe combined immunodeficiency

The U.S. Food and Drug Administration (FDA) has announced that it will allow marketing of the EnLite Neonatal TREC Kit. It is the first screening test for severe combined immunodeficiency (SCID) to receive the FDA’s blessing. 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.

Using a few drops of blood taken from the newborn’s heel, dried on filter paper, the EnLite Neonatal TREC Kit can determine whether a certain type of DNA, known as T-cell receptor excision circles (TREC DNA), is low or missing from the newborn’s blood. Newborns with SCID typically have zero or low amounts of TREC DNA compared to healthy infants. Additional testing is required to obtain an SCID diagnosis.

The U.S. Department of Health and Human Services and the Advisory Committee on Heritable Disorders in Newborns and Children recommend that every state screen newborn infants for SCID, among other genetic, endocrine, and metabolic disorders. To date, 25 states plus the District of Columbia and the Navajo Nation have implemented screening programs for SCID. Some states have regulations requiring that their newborn screening program use an FDA-approved or FDA-cleared test.

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 review included a clinical study of approximately 6,400 blood spot specimens from routine screening of newborns, 17 of which had confirmed SCID diagnosis. The EnLite Neonatal TREC Kit correctly identified all 17 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 that 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. It is also not intended to screen for less acute SCID syndromes, such as leaky-SCID or variant SCID.