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

University of California San Francisco (UCSF)

Status

Completed

Conditions

T Cell Lymphocytopenia

Severe Combined Immunodeficiency

Study type

Observational

Funder types

Other

Identifiers

NCT00845416

H55235-32562-01

R03HD060311 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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

Full 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

Enrollment

1,800 patients

Sex

All

Ages

1 to 30 days old

Volunteers

No Healthy Volunteers

Inclusion criteria