FDA approves first tool for screening for metabolic disorders in newborns

The FDA recently permitted marketing for the Seeker System to screen for four, rare Lysosomal Storage Disorders in newborns, including Mucopolysaccharidosis Type I, Pompe disease, Gaucher disease and Fabry disease.

These conditions range in incidence from approximately 1 in 1,500 to to 1 in 185,000 newborns and children, according to the HHS’ advisory committee on heritable disorders in newborns and children. These disorders can result in organ damage, neurological disability or death if not detected and treated at an appropriate time, according to the FDA.

“The Secretary of HHS recently added Pompe and [Mucopolysaccharidosis Type 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,” Alberto Gutierrez, PhD, director of the office of in vitro diagnostics and radiological health in the FDA’s Center for Devices and Radiological Health, said in a press release. “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 Disorders] screening methods that have been assessed for accuracy and reliability by the FDA are so important.”

Lysosomal Storage Disorder screening is mandated in several states; however, until now, there were no FDA-approved tools to screen for and detect these disorders, according to the FDA. The Seeker System enables physicians to measure protein activity levels through blood samples obtained from infants 24 to 48 hours after birth. Dried blood samples that indicate reduced enzyme activity of proteins suggest the presence of a disorder. These results must be confirmed with additional tests, including biopsies, and other laboratory assessments.

To ensure the safety and effectiveness of the Seeker System, the FDA examined its de novo premarket review pathway data of 154,412 newborns from Missouri and found that the system accurately identified at least one of the four Lysosomal Storage Disorders in 73 screened newborns, according to the FDA.

The FDA noted that false negative findings are a potential risk of the screening system.

For more information:

http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm539893.htm

Disclosure: The FDA reports that the Seeker System was created with funding from the Small Business Innovation Research program in NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development and is manufactured by Baebies Inc.