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Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population

This study has been completed.
Information provided by (Responsible Party):
University of California, San Francisco Identifier:
First received: February 17, 2009
Last updated: July 13, 2012
Last verified: July 2012
The goal of the proposed research is to establish the validity of a newborn screening method for severe combined immunodeficiency (SCID). The assay to be used is developed on the basis of PCR quantification of T-cell receptor excision circles (TRECs) that is absent in SCID patients, thus correlating with the disease

Severe Combined Immunodeficiency T Cell Lymphocytopenia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Newborn Screening for SCID in a High-Risk Population

Resource links provided by NLM:

Further study details as provided by University of California, San Francisco:

Enrollment: 1800
Study Start Date: March 2009
Study Completion Date: November 2011
Primary Completion Date: November 2011 (Final data collection date for primary outcome measure)
Detailed Description:
To show that early diagnosis of SCID with a TREC screening assay can warrant timely treatment of the disease and avoid life-threatening infections on patients. Babies with SCID are unable to fight infections. They become severely ill in their first months of life and do not survive unless their immune systems can be restored. SCID can be treated by bone marrow transplant if recognized early. The newborn screening test to be employed in this study is designed to diagnose SCID before infections occur. By conducting a pilot testing program in a high-risk population on the Navajo Indian Reservation, where one in 2,000 infants is born with SCID, we hope to confirm the benefits of newborn screening for early diagnosis of SCID

Ages Eligible for Study:   up to 30 Days   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Navajo Indians

Inclusion Criteria:

  • Birth in a study hospital on the Navajo Reservation

Exclusion Criteria:

  Contacts and Locations
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Please refer to this study by its identifier: NCT00845416

United States, Arizona
Chinle Hospital
Chinle, Arizona, United States
Tuba City Hospital
Tuba City, Arizona, United States
Sponsors and Collaborators
University of California, San Francisco
  More Information

Responsible Party: University of California, San Francisco Identifier: NCT00845416     History of Changes
Other Study ID Numbers: H55235-32562-01
R03HD060311 ( U.S. NIH Grant/Contract )
Study First Received: February 17, 2009
Last Updated: July 13, 2012

Keywords provided by University of California, San Francisco:
T cell
Primary Immunodeficiency

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Severe Combined Immunodeficiency
Immune System Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Leukocyte Disorders
Hematologic Diseases processed this record on September 19, 2017