The Food and Drug Administration (FDA) has approved the first newborn screening tool for four rare lysosomal storage disorders (LSDs), rare inherited metabolic disorders that if not detected and treated in a timely manner can cause organ damage, neurological disability or death.
The test, which will be marketed as the Seeker System, is designed to detect the LSDs Mucopolysaccharidosis Type I (MPS I) Pompe, Gaucher and Fabry. The conditions occur in about 1 in 1,500 to 1 in 185,000 newborns and children, depending on the disorder.
Several states currently mandate LSD screening in all newborns, such as Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. But, until now, there were no FDA-authorized devices for screening these disorders. The FDA authorized the test based on clinical and analytical validity testing.
The Seeker System, which consists of the Seeker LSD Reagent Kit – IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn’s heel 24 to 48 hours after birth. The Seeker Instrument automates the analysis of dried blood spots and detects reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit. Results from the kit may be confirmed using other test methods, such as biopsies, genetic and other laboratory tests.
Risks associated with the test include false positives, though none were identified through the study or through the Missouri State Public Health Laboratory’s 15-month surveillance program involving the Seeker System.
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health’s Eunice Kennedy Shriver National Institute of Child Health and Human Development. The device is made by Durham, North Carolina-based Baebies Inc.