FDA approves first newborn screening system for rare metabolic disorders
The Seeker System is approved to screen for four rare lysosomal storage disorders in newborns.
The US Food & Drug Administration (FDA) has permitted marketing of the first screening test that identifies four rare lysosomal storage disorders in newborns — mucopolysaccharidosis type I (MPS I), Pompe, Gaucher and Fabry.
The four disorders occur in approximately 1 in 1,500 to 1 in 185,000 newborns and children, according to the US Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children. These disorders may cause organ damage, neurologic disability, or death if not properly treated.
The Seeker System [Baebies Inc] works by measuring the level of proteins required for healthy lysosomal storage found in dried blood samples collected from a newborn's foot 24 to 48 hours after birth. Reduced enzyme activity of proteins associated with any of the four lysosomal storage disorders detected by the kit may indicate presence of a disorder.
To determine effectiveness of the system, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with lysosomal storage disorders. Efficacy was determined because the system was able to accurately identify at least 1 of each of these 4 lysosomal storage disorders in 73 screened newborns.
States that mandate screening for lysosomal storage disorders in newborns include New York, New Jersey, Arizona, Illinois, Kentucky, Michigan, Tennessee, Pennsylvania, New Mexico, and Ohio.
“The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs, and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders,” said Alberto Gutierrez, PhD, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. “Accurate screening tests will help with early detection, treatment, and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of lysosomal storage disorder screening methods that have been assessed for accuracy and reliability by the FDA are so important.”
- FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders [news release]. US Food and Drug Administration. February 3, 2017.