Protocol Number: 00-HG-0223

Title:

Decisions of Female Adolescents about Carrier Testing in Families with X-Linked Severe Combined Immunodeficiency (XSCID)

Number:

00-HG-0223

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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Active Accrual Of New Subjects

Gender: Female

Referral Letter Required: No

Population Exclusion(s): Male

Eligibility Criteria:

INCLUSION CRITERIA:

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.

Special Instructions: Currently Not Provided

Keywords:

Genetic

Analysis

Immune

Teenage

Girls

Severe Combined Immune Deficiency (SCID)

XSCID

Carrier Testing

X-Linked Disease

Adolescent

Recruitment Keywords:

None

Conditions:

Severe Combined Immunodeficiency

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

The interleukin-2 receptor gamma chain maps to Xq131 and is mutated in X-linked severe combined immunodeficiency, SCIDX1

Interleukin-2 receptor g chain mutation resuts in X-linked severe combined immunodeficiency in humans

The interleukin-2 receptor g chain: Its role in the multiple cytokine receptor complexes and T cell development in XSCID

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Networks and Applications, CC.

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Warren Grant Magnuson Clinical Center (CC)
National Institutes of Health (NIH)
Bethesda, Maryland 20892. Last update: 10/16/2004