CLN Article

FDA Authorizes First Newborn Screening System for Four Rare Metabolic Disorders

Regulatory Roundup: April 2017

The Food and Drug Administration (FDA) has cleared the Seeker system for the screening of four rare lysosomal storage disorders (LSDs) in newborns: mucopolysaccharidosis type I, Pompe, Gaucher, and Fabry disease. Several states currently mandate LSD screening in all newborns, including Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania, and Tennessee. However, until now there were no FDA-authorized devices to help diagnose these disorders.

FDA authorized the Seeker system through the de novo premarket review pathway. Consisting of the Seeker LSD reagent kit and Seeker instrument, the automated system analyzes dried blood samples collected from newborns via heel-stick 24 to 48 hours after birth to measure the activity levels of proteins required for healthy lysosomal storage. Reduced enzyme activity of proteins detected by the kit may indicate the presence of a disorder. However, results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic tests, or other laboratory tests.

The Seeker system was created with funding from the Small Business Innovation Research program in the National Institutes of Health’s Eunice Kennedy Shriver National Institute of Child Health and Human Development, and is manufactured by Baebies, Inc.