NCT00845416

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

Newborn Screening for SCID in a High-Risk Population

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 1,800 (actual)
• Sponsor: University of California, San Francisco · Academic / Other
• Sex: All
• Age: 1 Day – 30 Days
• Healthy volunteers: Not accepted

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

Timeline

• Start date: 2009-03-01
• Primary completion: 2011-11-01
• Completion: 2011-11-01
• First posted: 2009-02-18
• Last updated: 2012-07-16

Locations

2 sites across 1 country: United States