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

For Immediate Release

December 15, 2014

Release

The U.S. Food and Drug Administration today allowed marketing of the EnLite Neonatal TREC Kit, the first screening test permitted to be marketed by FDA for Severe Combined Immunodeficiency (SCID) in newborns.

According to the Centers for Disease Control and Prevention, approximately 40 to 100 new cases of SCID are identified in newborns in the United States each year. SCID is a group of disorders caused by defects in genes involved in the development and function of T cells and other infection-fighting immune cells.Babies with SCID appear normal at birth, but typically develop life-threatening infections within a few months. Without early intervention and treatment, death can occur within the baby’s first year; early detection and treatment can markedly improve survival.

Using a few drops of blood taken from the newborn’s heel, which is 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 a SCID diagnosis.

“SCID is a fatal disease that can be treated with early intervention, including screening,” said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in 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,” added Gutierrez.

The Secretary of 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 FDA’s 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 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.

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.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.