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Hutton M Kearney, PhD, FACMG
Fullerton Genetics Laboratory
North CarolinaBack to the Top
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Peter Andersen, MBA, MEd
Title V Contact
North Carolina Public Health
Deeksha Bali, PhD
Division of Medical Genetics
Anne Boney, MEd, RD, LDN
Dietitian
Division of Medical Genetics
Vail Brennan
Family Member
Kristen Brown, MS, RD, LDN
Metabolic Nutritionist
Dietitian
Dr Carlton G Watkins Center
Shu H Chaing, PhD
State NBS Lab Director
North Carolina Public Health
Joan Crissey, MA
State Genetics Coordinator
North Carolina Public Health
Stephanie DeArmey, MHS, PAc
Division of Medical Genetics
Cheryl Dickerson, MS
Genetic Counselor
Levine Childrens Hospital at
Dianne Frazier, PhD, MPH, RD
Academic Contact
Metabolic Nutritionist
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Shortterm follow up
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University of North Carolina Chapel Hill
Dave Gaurav, DrPH, MD, MPH
NC TraCS Institute
Geoffrey S Ginsburg, PhD, MD
Division of Medical Genetics
Yvonne Greene
Shortterm follow up
Stephen R Hooper, PhD
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The Carolina Institute
University of North Carolina Chapel Hill
Nicholas Katsanis, PhD
Division of Medical Genetics
Alex Kemper, MD, MS, MPH
General Pediatrician
Duke University Hospital
Dwight Koeberl, PhD, MD
Professor
Division of Medical Genetics
Brittany LaBore
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University of North Carolina
Kristy Lee, MS, CGC
Genetic Counselor
University of North Carolina Chapel Hill
Anuradha Manthripragada, MS, RD, CNSD, LDN
Metabolic Nutritionist
Levine Childrens Hospital at
Julie McClure, MPH, RD
Dietitian
University of North Carolina Chapel Hill
David Millington, PhD
Diagnostic Lab Director
Duke Biochemical Genetics Laboratory
Joseph Muenzer, MD
Academic Contact
Medical Geneticist
University of North Carolina Chapel Hill
Ifeyinwa Osunkwo, PhD, MD
Public Health Manager/Director
University of North Carolina Chapel Hill
Angela Parton
Family Member
Hari S Patel, MS
NBS Tandem MSMS Expert
North Carolina Public Health Laboratory
Surekha Pendyal, MEd, RD, LD
Metabolic Nutritionist
Dietitian
University of North Carolina Chapel Hill
Lara Percenti, MS, CGC
Genetic Counselor
Shortterm follow up
NBS Program Contact
North Carolina Public Health
Kathleen Rao, PhD
Diagnostic Lab Director
Cyto Lab
University of North Carolina Chapel Hill
Charmaine D Royal, PhD
Kevin Ryan, MD, MPH
Title V Contact
North Carolina Public Health
Patrick Seed, PhD, MD
Division of Medical Genetics
Jack Tarleton, PhD
Diagnostic Lab Director
Fullerton Genetics Laboratory
Brittany Taylor, RD, LDN
Dietitian
Division of Medical Genetics
Adviye A Tolun, PhD, MS
Biochem Lab
Division of Medical Genetics
Marcia M Wright
Sarah Young, PhD
Diagnostic Lab Director
Biochem Lab
Duke Biochemical Genetics Laboratory
SERC Highlights
March 2017

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

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 Arizona, 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.
 
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JELILI OJODU, MPH | Director, Newborn Screening and Genetics
Association of Public Health Laboratories | Analysis. Answers. Action.
P +1 240.485.2772 | F +1 240.485.2700 | jelili.ojodu@aphl.org
 
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