Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID

NCT00006335 | Completed

• 2 other identifiers: 00022300-HG-0223
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to learn what factors influence adolescent girls' decisions regarding testing for carrier status of X-Linked Severe Combined Immunodeficiency (XSCID). It will provide information about how healthy relatives feel about whether they could be XSCID carriers, whether carrier testing should be pursued, and, if so, at what age. Commonly known as "Bubble Boy Disease," XSCID is a rare, life-threatening immune system disorder that affects only males, but females who carry the gene mutation can pass the disease to their male children. Adolescent girls 13 to 17 years old who have a relative with XSCID and are known to be at risk for being carriers are eligible for this study. Participants will receive genetic counseling to help them decide if they want to be tested for the XSCID gene. Those who elect to be tested will provide a DNA sample from either a blood draw or brushing taken from inside the mouth. They will receive the test results from the same genetic counselor they spoke with before the testing. All participants will also talk with a psychologist over the phone once a year for 3 years to answer questions about how they are feeling and what they know about XSCID. They will be asked to discuss their decision and feelings about carrier testing.

Conditions

Severe Combined Immunodeficiency

Keywords

Genetic; Analysis; Immune; Teenage; Girls; Severe Combined Immune Deficiency (SCID); XSCID; Carrier Testing; X-Linked Disease; Adolescent

Eligibility Criteria

• Age: 13 Years - 17 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Only families who have solicited adolescent carrier testing will be considered.
• Mentally competent females from 13 through 17 years of age are eligible to enroll if they have had a relative with XSCID proven by consistent medical history and mutation detection in IL2RG.
• Enrollees must be able to communicate in English (if a Spanish-speaking interviewer with appropriate expertise in genetics and psychology is located, interview forms may be translated so that subjects who speak Spanish can be included).
• All ethnic groups are eligible.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993 Aug;2(8):1099-104. doi: 10.1093/hmg/2.8.1099.

  PMID: 8401490 BACKGROUND

• Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993 Apr 9;73(1):147-57. doi: 10.1016/0092-8674(93)90167-o.

  PMID: 8462096 BACKGROUND

• Sugamura K, Asao H, Kondo M, Tanaka N, Ishii N, Ohbo K, Nakamura M, Takeshita T. The interleukin-2 receptor gamma chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID. Annu Rev Immunol. 1996;14:179-205. doi: 10.1146/annurev.immunol.14.1.179.

  PMID: 8717512 BACKGROUND

MeSH Terms

Conditions

Severe Combined Immunodeficiency; X-Linked Combined Immunodeficiency Diseases

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: October 4, 2000
• First Posted: October 5, 2000
• Study Start: September 26, 2000
• Primary Completion: September 25, 2008
• Last Updated: July 2, 2017

Record last verified: 2009-09-23

Locations

US (1)