FDA OKs First Newborn Screening Test for SCID

Megan Brooks

Disclosures

December 16, 2014

The US Food and Drug Administration (FDA) has cleared for marketing the first screening test for severe combined immunodeficiency (SCID) in newborns.

The EnLite Neonatal TREC Kit, manufactured by Wallac Oy, a subsidiary of Perkin Elmer, determines the level of T-cell receptor excision circles (TREC DNA) in a few drops of blood taken from the newborn's heel. Newborns with SCID typically have no or low amounts of TREC DNA compared with healthy infants.

According to the Centers for Disease Control and Prevention, about 40 to100 cases of SCID are identified in newborns in the United States each year. SCID is caused by defects in genes involved in the development and function of T cells and other infection-fighting immune cells.

Infants with SCID appear normal at birth but typically develop life-threatening infections within a few months, according to an FDA release.

"SCID is a fatal disease that can be treated with early intervention, including screening," Alberto Gutierrez, PhD, director of the Office of In Vitro Diagnostics and Radiological Health in FDA's Center for Devices and Radiological Health, said in the statement.

"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," added Dr Gutierrez.

In a clinical study of roughly 6400 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 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," the FDA notes.

Federal health officials currently recommend that states 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, according to the FDA. Some states have regulations requiring that newborn screening tests are cleared by the FDA before use.

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