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Meeting Announcement: Advisory Committee on Heritable Disorders in Newborns and Children - May 11-12, 2017 | News
Meeting Announcement:  Advisory Committee on Heritable Disorders in Newborns and Children - May 11-12, 2017
Announcement: The next meeting for the Advisory Committee on Heritable Disorders in Newborns and Children will be held in-person and via webcast on May 11, 2017, 9:30 a.m. to 5:00 p.m. and May 12, 2017, 9:30 a.m. to 3:00 p.m. The address for the meeting is 5600 Fishers Lane, 5th Floor Pavilion, Rockville, MD 20857.



Registration: This meeting will be open to the public but advance registration is required. The registration link is The online registration deadline is Thursday, May 4, 2017, 5:00 p.m. Eastern Time. For technical problems gaining access to the registration website, please email Morgan Pinckney at

Agenda: The agenda is still being finalized, but meeting topics will include:

(1) Identifying and following up on out of range newborn screening results

(2) CDC’s Newborn Screening Quality Assurance Program

(3) Implementation of Critical Congenital Heart Defects screening

(4) A Report on Medical Foods for Inborn Errors of Metabolism

(5) A new nomination for spinal muscular atrophy (SMA) – the Committee will vote whether to send SMA forward for a full evidence review

(6) Updates from the Laboratory Standards and Procedures workgroup, Follow-up and Treatment workgroup, and Education and Training workgroup

Agenda items are subject to changes as priorities indicate. The Committee will not be voting on a proposed addition of a condition to the Recommended Uniform Screening Panel. The meeting agenda will be available two (2) days prior to the meeting on the Committee’s website:

Public Comments: Members of the public may submit written and/or present oral comments at the meeting. All comments are part of the official Committee record. Advance registration is required to submit written comments and/or present oral comments. Written comments must be submitted by April 28, 2017, 12:00 p.m. Eastern Time in order to be included in the May meeting briefing book. Written comments should identify the individual’s name, address, email, telephone number, professional or organization affiliation, background or area of expertise (i.e. parent, family member, researcher, clinician, public health, etc.) and the topic/subject matter.

Individuals who wish to provide oral comments must register by Thursday, May 4, 2017, 5:00 p.m. Eastern Time. To ensure that all individuals who have registered to make oral comments can be accommodated, the allocated time may be limited. Individuals who are associated with groups or have similar interests may be requested to combine their comments and present them through a single representative. No audiovisual presentations are permitted.

Contact Person: Anyone requesting more information should contact Ann Ferrero in one of three ways: 1) send a request to the following address: Ann Ferrero, MCHB, HRSA; 5600 Fishers Lane, Room 18N100C; Rockville, Maryland 20857; 2) call 301-443-3999 or 3) send an email to:

Event Details

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May 11thMay 12th, 2017

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May 2017

Southeast Regional Genetics NetworkAdded
2017-04-25 by Adrya Stembridge
Last Updated
2017-04-25 by Adrya Stembridge

SERN Highlights
April 2018

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.
JELILI OJODU, MPH | Director, Newborn Screening and Genetics
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