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

NCT ID: NCT00845416

Last Updated: 2012-07-16

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 1800 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2009-03-31
• Study Completion Date: 2011-11-30

Brief Summary

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

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

Conditions

Severe Combined Immunodeficiency; T Cell Lymphocytopenia

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Birth in a study hospital on the Navajo Reservation

Exclusion Criteria

• None

• Minimum Eligible Age: 1 Day
• Maximum Eligible Age: 30 Days
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of California, San Francisco

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Chinle Hospital

Chinle, Arizona, United States

Tuba City Hospital

Tuba City, Arizona, United States

Countries

United States

Other Identifiers

R03HD060311

Identifier Type: NIH

Identifier Source: secondary_id

View Link

H55235-32562-01

Identifier Type: -

Identifier Source: org_study_id