NEW YORK – PerkinElmer said Monday it had secured US Food and Drug Administration authorization to market an assay for the simultaneous detection of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in newborns.
The Waltham, Massachusetts-based firm said the Eonis SCID-SMA assay kit is the first FDA-authorized assay for SMA screening in newborns. A company spokesperson said the SMA portion of the assay went through the FDA's de novo regulatory pathway whereas the SCID portion gained 510(k) clearance because it has a predicate assay, PerkinElmer's EnLite Neonatal TREC kit.
The kit is designed for use with dried blood spot samples on the company's Eonis real-time PCR instrument.
Petra Furu, general manager of reproductive health at PerkinElmer, said in a statement that the combination test is a result of a nearly three-decade commitment to help diagnose rare diseases and inherited disorders in newborns, and the authorization is "a major milestone for newborn screening in the United States."
SMA causes progressive degeneration and loss of lower motor neurons in an infant's spinal cord and brain stem nuclei, resulting in muscle weakness, atrophy, and death. SCID is a group of rare inherited disorders that result in absence of humoral and cellular immunity, and untreated complications can be fatal.