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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
University of California, San Francisco
ClinicalTrials.gov Identifier:
NCT00845416
First received: February 17, 2009
Last updated: July 13, 2012
Last verified: July 2012
  Purpose

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


Condition
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

  Eligibility

Ages Eligible for Study:   up to 30 Days
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Navajo Indians

Criteria

Inclusion Criteria:

  • Birth in a study hospital on the Navajo Reservation

Exclusion Criteria:

  • None
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00845416

Locations
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

No publications provided

Responsible Party: University of California, San Francisco
ClinicalTrials.gov Identifier: NCT00845416     History of Changes
Other Study ID Numbers: H55235-32562-01, R03HD060311
Study First Received: February 17, 2009
Last Updated: July 13, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by University of California, San Francisco:
TREC
T cell
Primary Immunodeficiency
PID
Navajo
SCID

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Lymphopenia
Severe Combined Immunodeficiency
Immune System Diseases
Leukopenia
Leukocyte Disorders
Hematologic Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases

ClinicalTrials.gov processed this record on April 14, 2014