The U.S. Food and Drug Administration (FDA) has authorized the marketing of PerkinElmer's Eonis SCID-SMA assay kit for in vitro diagnostic (IVD) use by certified laboratories for the simultaneous detection of spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in newborns, the firm announced on Monday.
Part of PerkinElmer's Eonis Platform, this is the first FDA-authorized assay for SMA screening in newborns in the U.S.
SMA is a leading genetic cause of infant death and is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. SCID, which is a group of rare inherited disorders characterized by the absence of both humoral and cellular immunity, can also lead to life-threatening health complications if untreated. Early detection and intervention are critical for newborns affected by either condition, PerkinElmer noted.
“For nearly three decades, PerkinElmer has delivered innovative solutions to laboratories and clinicians worldwide that help diagnose newborns with rare diseases and inherited disorders,” Petra Furu, general manager of reproductive health at PerkinElmer, said in a statement.
“This authorization is a major milestone for newborn screening in the U.S. Labs across the country will be able to access technologies that detect SMA and SCID, and provide them the confidence that every test meets regulatory, manufacturing and accreditation requirements.”
The Eonis Platform is a flexible system that utilizes real-time PCR technology to screen for both SMA and SCID using a single dried blood spot sample, combining DNA extraction and multiplexing. When the system is combined with the firm's Janus liquid handler, the workflow allows for maximum automation and efficiency, and can be configured to a laboratory’s individual requirements and throughput, the Waltham, MA-based firm said.
Other components of the platform include the Eonis DNA Extraction kit and Eonis Analysis Software.
The Eonis Platform is CE-IVD marked for use by certified laboratories in countries that accept the designation.
