FDA: The U.S. Food and Drug Administration today permitted marketing of
the Seeker System for the screening of four, rare Lysosomal Storage
Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe, Gaucher and Fabry. It is the first newborn screening test permitted to be marketed by the FDA for these disorders. LSDs
are a group of rare, inherited metabolic disorders in which enzymes
(proteins) that normally eliminate unwanted substances in the body’s
cells are not at normal levels or functioning properly. According to the
U.S. Department of Health and Human Services’ Advisory Committee on
Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and
Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000
newborns and children, depending on the disorder. If not detected and
treated in a timely manner, these disorders may cause organ damage,
neurological disability or death.
“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, Ph.D., 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 LSD screening
methods that have been assessed for accuracy and reliability by the FDA
are so important.”
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 today there were there were no FDA-authorized devices for
screening of these disorders. Availability of the Seeker System provides
laboratories with a screening tool that has been reviewed by the FDA
for clinical and analytical validity.
The Seeker System,
consisting 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 is a device that automates the analysis of dried blood
spots. Reduced enzyme activity of proteins associated with any of the
four LSDs detected by the kit may indicate presence of a disorder.
Results showing reduced enzyme activity must be confirmed using other
testing methods, such as biopsies, genetic and other laboratory tests.
The
FDA reviewed the data for the Seeker System through the de novo
premarket review pathway, a regulatory pathway for devices of a new type
with low-to-moderate-risk that are not substantially equivalent to an
already legally marketed device and for which special controls can be
developed, in addition to general controls, to provide a reasonable
assurance of safety and effectiveness of the devices. During this
process, 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 MPS I, Pompe, Gaucher and Fabry. Efficacy was
determined because the system was able to accurately identify at least
one of each of these four LSDs in 73 of the screened newborns.
Risks
associated with use of the screening system include false negative
findings. As part of this study, the Missouri State Public Health
Laboratory conducted active surveillance of four of the state’s
metabolic clinical centers for new diagnoses of these disorders. The
state laboratory’s surveillance activities extended 15 months following
the study’s completion to determine cases of false negatives that had
not been identified during the study. No false negative results were
identified either through the study or the state’s 15-month surveillance
program.
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. It is manufactured by
Baebies Inc., located in Durham, North Carolina.
The FDA, an
agency within the U.S. Department of Health and Human Services, promotes
and protects the public health by, among other things, assuring the
safety, effectiveness, and security of human and veterinary drugs,
vaccines and other biological products for human use, and medical
devices. The agency also is responsible for the safety and security of
our nation’s food supply, cosmetics, dietary supplements, products that
give off electronic radiation, and for regulating tobacco products.