PerkinElmer’s Assay for Spinal Muscular Atrophy in Newborns Authorized

PerkinElmer has gained FDA marketing authorization for its EONIS assay to simultaneously detect spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID) in newborns — making it the first assay authorized by the FDA for SMA screening in newborns.

The FDA submission was split into two parts, a company spokesperson told FDAnews. The SMA portion, being a new indication, went through the agency’s De Novo authorization pathway, while the SCID portion of the assay gained a 510(k) clearance using the company’s previously approved EnLite Neonatal TREC kit as the reference product. TREC (T-cell receptor excision circle) is a biomarker for SCID.

SMA is a group of hereditary diseases that destroys nerve cells in the brain stem and spinal cord, causing significant motor disability and respiratory problems. SCID affects the development of immune cells and leaves the immune system unable to fight off infections.

The EONIS platform uses polymerase chain reaction technology to screen for both SMA and SCID using a dried blood spot sample, DNA extraction, amplification and data analysis using dedicated EONIS analysis software. The platform previously gained CE-IVD mark certification in Europe.