Developing Newborn Screening for Infants With Primary Immunodeficiency

NCT00113464 | Completed

• 2 other identifiers: 05016205-HG-0162
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

This study will explore screening for immunodeficiency diseases (diseases that cause problems in fighting infections). There is no method at present to screen all babies at birth for immunodeficiency. However, babies with low numbers of T-cells-an important type of immune system cell-may be found by studying T-cell products called TRECs (T-cell receptor excision circles). This study will:

• Collect samples from children with several different immunodeficiencies to find out which disorders can be found by screening dried blood spots for TRECs.
• Try to develop screening tests based on other kinds of material derived from dried blood spots. Children with primary immunodeficiency and low numbers of T cells who have not had a bone marrow transplant may be eligible for this study. Participating children donate up to 5 ml (1 teaspoon) of blood. The sample may be collected when the child is having other blood tests. The liquid blood is analyzed to determine the number of T cells, and the rest of the blood is used to make dried blood spots on filter paper. The blood spots are used to develop screening tests for immunodeficiency. The blood spots and data about the child's age, diagnosis, and current medicines will be kept coded by diagnosis and a code number instead of the child's name.

Conditions

Immune System Diseases

Keywords

SCID (Severe Combined Immunodeficiency); TREC (T cell Receptor Excision Circle); Bone Marrow Transplant; Dried Blood Spots; Early Detection; T Cell Immunodeficiency Diseases; Immunodeficiency Diseases; Primary Immunodeficiency; T Cell Immunodeficiency Disease; Severe Combined Immunodeficiency; SCID

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patient who has not yet received a BMT and who has defined PI or undefined PI with T cell lymphopenia.

You may not qualify if:

• None.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

Yale University

New Haven, Connecticut, 06510-8005, United States

Location

Related Publications (1)

• Barrett DJ, Ammann AJ, Wara DW, Cowan MJ, Fisher TJ, Stiehm ER. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981 Jul;6(1):1-6.

  PMID: 6973633 BACKGROUND

MeSH Terms

Conditions

Immune System Diseases; X-Linked Combined Immunodeficiency Diseases; Primary Immunodeficiency Diseases; Severe Combined Immunodeficiency

Condition Hierarchy (Ancestors)

Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases; Immunologic Deficiency Syndromes; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: June 7, 2005
• First Posted: June 8, 2005
• Study Start: June 2, 2005
• Study Completion: April 13, 2007
• Last Updated: July 2, 2017

Record last verified: 2007-04-13

Locations

US (1)