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

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

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Key information

Conditions

Severe Combined Immunodeficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Infant, Newborn, Diseases Metabolic Diseases Nutritional and Metabolic Diseases Primary Immunodeficiency Diseases T Cell Lymphocytopenia

Age range

1 day–30 day

Sex eligibility

All sexes

Study type

Observational

Primary location

Chinle Hospital, Chinle, Arizona, United States

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Birth in a study hospital on the Navajo Reservation

Exclusion criteria

None

Sponsors and collaborators

Lead sponsor

University of California, San Francisco

Other

Registry information

Official study title

Newborn Screening for SCID in a High-Risk Population

Important dates

Study start: 2009
Primary completion: 2011
Study completion: 2011
First posted: Feb 18, 2009
Registry last updated: Jul 16, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed