Ignite Creation Date:
2025-12-24 @ 10:37 PM
Ignite Modification Date:
2025-12-25 @ 8:09 PM
Study NCT ID:
NCT00006335
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2000-10-04
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID
Sponsor:
National Human Genome Research Institute (NHGRI)
Organization:
Study Overview
Official Title:
Decisions of Female Adolescents About Carrier Testing in Families With X-Linked Severe Combined Immunodeficiency (XSCID)
Status:
COMPLETED
Status Verified Date:
2009-09-23
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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.
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.
Detailed Description:
This protocol studies carrier testing decisions of female adolescents who have a male relative with X-linked severe combined immunodeficiency (XSCID). XSCID is a rare immunodeficiency that affects only males, although females carrying XSCID mutations can pass the disease to their male offspring. In previous generations infant boys with XSCID uniformly died, but medical interventions such as bone marrow transplantation and now gene therapy, have proven life-saving for many patients. XSCID was mapped in 1987, and the disease gene was identified in 1993; these advances made possible patient and carrier diagnosis, which have been available on a research basis for 10 years through IRB-approved protocols of Dr. Puck. A large sample of XSCID families enrolling in molecular diagnosis protocols participated in her psychological study of the impact on adult siblings of having a brother affected with XSCID (Protocol OH98-HG-N015, Perception of Carrier Status in Families with X-Linked Severe Combined Immunodeficiency, now complete and terminated). That study indicated strong interest on the part of at-risk females for carrier diagnosis before reaching the age of adulthood. The current protocol is a follow-up protocol that functions in concert with Protocol 95-HG-0066 (Genetic Analysis of Immune Disorders) to study the decision-making process and the impact of carrier testing in female adolescents from families with known XSCID mutations. With parental consent, carrier testing for girls from age 13 through age 17 will be discussed in a genetic counseling session. The 50% risk of being a carrier and the 50% chance of XSCID in male offspring of carriers will be explained. Possible psychological and other benefits and harms of testing will be aired. If elected by the girl, XSCID mutation testing will be performed by having her enroll in our genetic testing protocol 95-HG-0066. Follow-up interviews with all girls enrolled, both tested and not tested, will be conducted at 3 months and a year post encounter.
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary ID Infos
| Secondary ID | Type | Domain | Link | View |
|---|---|---|---|---|
| 00-HG-0223 | None | None | View |