Clinical Trial: Neonatal Screening of Severe Combined Immunodeficiencies

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs

Brief Summary: The goal of the proposed research is to observe the prevalence and 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 Summary:

Severe combined Immunodeficiencies (SCID) are a group of inherited diseases of the immune system by characterized profound abnormalities of B and T cell development. Infants with SCID require prompt clinical response to prevent life threatening infection and studies show significantly improved survival in babies Diagnosed at birth as a result of previous family history. SCID follows criteria for population based newborn screening since it is asymptomatic at birth and fatal within the first year of life, the confirmation of the disease is easy, there is a curative treatment, and it is known that early stem cell transplantation improves survival.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. We undertake the task of newborn screening in the whole region of Shanghai, So the newborn screening test to be employed in this study is designed to diagnose SCID before infections occur. Through this study, we hope to confirm the prevalence of SCID in China and the benefits of newborn screening for early diagnosis of SCID.

Quantification of TRECs (T-cell receptor excision circles) in DNA extracted from Guthrie samples is a sensitive screening test for Specific and SCID. TRECs are small-circle DNA molecules which are by-products of T cell maturation in the thymus, and their numbers reflect the number of recently emigrated T-cells from the thymus. Since all infants with SCID have a profound decrease in T-lymphocytes no matter what gene mutations are involved, logically the number of TRECs present in blood collected via dried blood spots 1-2 days
Sponsor: Children's Hospital of Fudan University

Current Primary Outcome: prevalence of SCID [ Time Frame: At 28 days after birth ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Number of detected SCID patients [ Time Frame: At 28 days after birth ]

Original Secondary Outcome: Same as current

Information By: Children's Hospital of Fudan University

Dates:
Date Received: October 27, 2015
Date Started: December 2015
Date Completion: December 2020
Last Updated: February 27, 2017
Last Verified: February 2017