Severe Combined ImmunodeficiencyNCT00006335
Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID
An observational study of Severe Combined Immunodeficiency, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 13 to 17 years, women only
- Conditions the study is for
- Severe Combined Immunodeficiency
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Sep 2000to 25 Sep 2008
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 13 to 17 years
- Women only
- No healthy volunteers
- Child
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Decisions of Female Adolescents About Carrier Testing in Families With X-Linked Severe Combined Immunodeficiency (XSCID)
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.
Read more
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.
Read the 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.
- Conditions
- Severe Combined Immunodeficiency
- Keywords
- Genetic, Analysis, Immune, Teenage, Girls, Severe Combined Immune Deficiency (SCID), XSCID, Carrier Testing, X-Linked Disease, Adolescent
- Medical subject headings
- Severe Combined Immunodeficiency, X-Linked Combined Immunodeficiency Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Oct 2000 (estimated)
- Study start26 Sep 2000
- Primary completion25 Sep 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Severe Combined ImmunodeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 40 participants
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00006335
- Sponsor's protocol ID
- 000223
- Other IDs
- 00-HG-0223
- Status last verified
- 23 Sep 2009
- First submitted
- 4 Oct 2000
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
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.
PubMed 8401490Noguchi 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.
PubMed 8462096Sugamura 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.
PubMed 8717512
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Decisions of Female Adolescents About Carrier Testing in Families With X-Linked Severe Combined Immunodeficiency (XSCID)
- ClinicalTrials.gov ID
- NCT00006335
- Acronym / sponsor ID
- 000223
- Conditions
- Severe Combined Immunodeficiency
- Keywords
- Genetic, Analysis, Immune, Teenage, Girls, Severe Combined Immune Deficiency (SCID), XSCID, Carrier Testing
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 26 Sep 2000
- Primary completion
- 25 Sep 2008 (actual)
- First posted
- 5 Oct 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
Who may qualify
- Ages
- 13 to 17 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
- Background: PubMed 8401490Puck 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.
- Background: PubMed 8462096Noguchi 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.
- Background: PubMed 8717512Sugamura 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Severe Combined Immunodeficiency, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00006335, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017; AzTrials last refreshed its copy on 7 Nov 2026.