FDA allows marketing of first newborn screening test to help detect Severe Combined Immunodeficiency

December 19, 2014

FDA has allowed marketing of the EnLite Neonatal TREC kit (PerkinElmer), the first newborn screening test for detection of Severe Combined Immunodeficiency (SCID).

FDA has allowed marketing of the EnLite Neonatal TREC kit (PerkinElmer), the first newborn screening test for detection of Severe Combined Immunodeficiency (SCID).

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SCID is an inherited condition due to a severe defect in the development and function of T cells and other immune system cells, making it difficult or impossible to fight off infections. According to the Journal of the American Medical Association, it affects approximately 1 in 58,000 newborns each year. SCID is potentially fatal, but if detected early enough, it is treatable and in most cases curable. Identifying SCID early on is critical because eventually, a patient’s immune system becomes compromised, resulting in less positive treatment outcomes.

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The Enlite Neonatal TREC Kit tests the newborn’s blood levels to determine whether a certain type of DNA, known as T-cell receptor excision circles (TREC DNA), is low or missing. Newborns with SCID usually have zero or low amounts of TREC DNA compared to healthy babies. The test provides accurate results that identify newborns for further confirmatory testing which leads to a diagnosis.

"Implementing newborn screening for SCID provides a cost benefit compared to the greater costs of managing the condition when detected later," said Fred Lorey, PhD, newborn screening consultant and member of the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, in a press release. "Earlier detection and diagnosis of SCID can result in cost-savings and benefits, due to the fact that earlier-diagnosed infants with SCID require less-intensive clinical care for a shorter period of time."

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FDA reviewed the screening 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 SCID cases.

The EnLite Neonatal TREC kit is not intended to be used as a diagnostic test or to screen for SCID-like syndromes or less acute SCID syndromes, such as leaky-SCID or variant SCID. 

Erin Bastick is a PharmD Candidate 2016, Ohio Northern University, Ada, Ohio, and an inpatient intern at University Hospitals, Cleveland.