Huntington's DiseaseNCT00491842
Individuals Patterns of Disclosure About Huntington s Disease (HD) and the Association With Adaptation to HD
An observational study of Huntington's Disease, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
This study will examine the ways in which people reveal their status as a carrier of Huntington s disease (HD) or of being at risk for the disease. It will explore factors that influence decisions about disclosure and how disclosure is made to family members, partners, and close friends. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Huntington's Disease
- How many people
- 315 participants
- Where
- 1 siteUnited States
- Study dates
- 22 Jun 2007to 29 Sep 2023
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Presymptomatic carriers of HD \& Individuals at-risk for HD
Who may be able to join
- Men and women who self-report:
- Testing positive for the HD gene expansion, or
- Not having undergone predictive genetic testing, but having a grandparent, parent, or sibling who has been clinically diagnosed with HD or has tested positive for the HD gene expansion
- Ability to read and write English
Who cannot join
- Children younger than 18
- Manifesting HD symptoms, based on self-report
- Received predictive genetic testing within the past 6 months
- Received predictive genetic test result indicating the absence of the gene expansion
Trial locations and contacts
1 site in 1 country.
United States1 site
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Individuals' Patterns of Disclosure About Huntington's Disease and Association With Adaptation to HD
This study will examine the ways in which people reveal their status as a carrier of Huntington s disease (HD) or of being at risk for the disease. It will explore factors that influence decisions about disclosure and how disclosure is made to family members, partners, and close friends.
HD is an inherited, progressive disease. It causes nerve degeneration, motor disturbance, loss of awareness, and psychiatric symptoms. Currently, no effective treatment is available to prevent or delay HD progression. The mean age of onset is 35 to 44 years, and the median survival rate after onset is 15 to 18 years. HD affects about 1 in 10,000 people in the United States, so about 30,000 have HD and more than 200,000 are at risk. Predictive testing for HD has been available since 1993. It can be a life-changing event to learn of being at risk for HD. Disclosure has been studied among people with HD and other diseases, but knowledge about the extent of nondisclosure and disclosure is limited. There is evidence that a person s psychological adaptation to AD may be a factor. Adaptation involves processes that help a person search for meaning in what has happened, attempt to gain control of his or her life, and improve self-esteem in light of the threatening situation.
Read more
Participants ages 18 and older who have had a positive genetic test result more than 6 months earlier regarding HD or who have a family history of HD but no predictive testing and who do not have symptoms of HD may be eligible for this study. Recruitment is done through HD clinics, support groups, and online websites and mailing listservs. About 260 people will be in the study. Participants will complete a survey taking 30 to 40 minutes to do. Two survey versions are available: for those who are gene carriers and for those at risk. Participants are asked to complete the version applying to them. The survey can be done online or through a hard copy to complete at home and send to NIH. This survey is anonymous.
Participants will list the adults with whom they have a relationship and up to 10 people they interact with. They will indicate those who know about the HD gene or risk status. They will also list those to whom they have personally made disclosure. The goal is to distinguish if knowing the status or the act of disclosure is more important. Questions also involve discussing the inheritance and features of HD, and participants feelings or concerns about HD gene or risk status. Participants will be asked about their first disclosure experience, most recent experience of it, and timing of disclosure the time between learning of HD status and telling another person about it. There are also questions on decisions of nondisclosure, negative and positive aspects of disclosure for participants, and what health care professionals can do to help participants disclosure decisions.
Read the detailed description
The proposed study aims to describe presymptomatic and at-risk individuals' patterns of disclosure about Huntington's disease (HD) and HD risk to family and friends, and to investigate whether an association exists between disclosure about HD and psychological adaptation to HD. HD is reported to be one of the conditions most frequently involved in cases of nondisclosure about genetic risk. Little is known about the extent of disclosure and the process of disclosure within the HD population. Evidence suggests that a relationship may exist between disclosure of one's condition to others and psychological adaptation to the condition; however, this theory has never been tested. The conceptual framework of the study is informed by Shelly Taylor's Theory of Cognitive Adaptation. We will use a cross-sectional survey to 1) investigate individuals' patterns of disclosure about HD and 2) assess psychological adaptation to HD. Participants will be recruited from HD clinics, HD support groups, HD websites, and HD online mailing listservs. Eligible participants will be asked to complete either a web-based or a paper survey. The main outcome measure is psychological adaptation to HD.
- Conditions
- Huntington's Disease
- Keywords
- Huntington's Disease, Disclosure, Adaptation, Communication, Natural History, Huntington Disease, HD, Phone Interview
- Medical subject headings
- Huntington Disease, Communication
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| At-risk | Individuals at-risk for HD | |
| Presymptomatic | Presymptomatic carriers of HD |
What is being measured
The primary outcome is the main question the study is designed to answer.
Social Network Measure Developed Specifically for this Study
To explore what factors influence decisions about disclosure of HD carrier or risk status in the target population
Measured: Enrollment
Social Network Measure Developed Specifically for this Study
To explore relationships between the three domains of disclosure: to whom individuals are disclosing their HD carrier or risk status, when individuals are disclosing their HD carrier or risk status, and what specific information individuals are disclosing to family members, partners, and close friends.
Measured: Enrollment
Social Network Measure Developed Specifically for this Study
To describe patterns of disclosure in the target population
Measured: Enrollment
Psychological Adaptation Scale
To examine the relationship between individuals patterns of disclosure about HD and HD risk and their psychological adaptation to HD, taking into account other covariates (gender, age, ethnicity, marital status, level of education, known positive gene carrier versus at-risk, and recruitment source).
Measured: Enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jun 2007 (estimated)
- Study start22 Jun 2007
- Primary completion27 Mar 2008
- Study completion29 Sep 2023
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 Huntington's DiseaseStudies 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
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 315 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Lori Erby, Ph.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00491842
- Sponsor's protocol ID
- 999907179
- Other IDs
- 07-HG-N179
- Status last verified
- Sep 2023
- First submitted
- 23 Jun 2007
- Last updated
- 3 Oct 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Clarke A, Richards M, Kerzin-Storrar L, Halliday J, Young MA, Simpson SA, Featherstone K, Forrest K, Lucassen A, Morrison PJ, Quarrell OW, Stewart H. Genetic professionals' reports of nondisclosure of genetic risk information within families. Eur J Hum Genet. 2005 May;13(5):556-62. doi: 10.1038/sj.ejhg.5201394.
PubMed 15770225Craufurd D, Dodge A, Kerzin-Storrar L, Harris R. Uptake of presymptomatic predictive testing for Huntington's disease. Lancet. 1989 Sep 9;2(8663):603-5. doi: 10.1016/s0140-6736(89)90722-8.
PubMed 2570293Figueiredo MI, Fries E, Ingram KM. The role of disclosure patterns and unsupportive social interactions in the well-being of breast cancer patients. Psychooncology. 2004 Feb;13(2):96-105. doi: 10.1002/pon.717.
PubMed 14872528
Study at a glance
From the registry record, last updated by the sponsor on 3 Oct 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Individuals' Patterns of Disclosure About Huntington's Disease and Association With Adaptation to HD
- ClinicalTrials.gov ID
- NCT00491842
- Acronym / sponsor ID
- 999907179
- Conditions
- Huntington's Disease
- Keywords
- Huntington's Disease, Disclosure, Adaptation, Communication, Natural History, Huntington Disease, HD, Phone Interview
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 315 participants (actual)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 22 Jun 2007
- Primary completion
- 27 Mar 2008 (actual)
- Study completion
- 29 Sep 2023 (actual)
- First posted
- 26 Jun 2007 (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.
This study will examine the ways in which people reveal their status as a carrier of Huntington s disease (HD) or of being at risk for the disease. It will explore factors that influence decisions about disclosure and how disclosure is made to family members, partners, and close friends.
HD is an inherited, progressive disease. It causes nerve degeneration, motor disturbance, loss of awareness, and psychiatric symptoms. Currently, no effective treatment is available to prevent or delay HD progression. The mean age of onset is 35 to 44 years, and the median survival rate after onset is 15 to 18 years. HD affects about 1 in 10,000 people in the United States, so about 30,000 have HD and more than 200,000 are at risk. Predictive testing for HD has been available since 1993. It can be a life-changing event to learn of being at risk for HD. Disclosure has been studied among people with HD and other diseases, but knowledge about the extent of nondisclosure and disclosure is limited. There is evidence that a person s psychological adaptation to AD may be a factor. Adaptation involves processes that help a person search for meaning in what has happened, attempt to gain control of his or her life, and improve self-esteem in light of the threatening situation.
Participants ages 18 and older who have had a positive genetic test result more than 6 months earlier regarding HD or who have a family history of HD but no predictive testing and who do not have symptoms of HD may be eligible for this study. Recruitment is done through HD clinics, support groups, and online websites and mailing listservs. About 260 people will be in the study. Participants will complete a survey taking 30 to 40 minutes to do. Two survey versions are available: for those who are gene carriers and for those at risk. Participants are asked to complete the version applying to them. The survey can be done online or through a hard copy to complete at home and send to NIH. This survey is anonymous.
Participants will list the adults with whom they have a relationship and up to 10 people they interact with. They will indicate those who know about the HD gene or risk status. They will also list those to whom they have personally made disclosure. The goal is to distinguish if knowing the status or the act of disclosure is more important. Questions also involve discussing the inheritance and features of HD, and participants feelings or concerns about HD gene or risk status. Participants will be asked about their first disclosure experience, most recent experience of it, and timing of disclosure the time between learning of HD status and telling another person about it. There are also questions on decisions of nondisclosure, negative and positive aspects of disclosure for participants, and what health care professionals can do to help participants disclosure decisions.
Detailed description
The proposed study aims to describe presymptomatic and at-risk individuals' patterns of disclosure about Huntington's disease (HD) and HD risk to family and friends, and to investigate whether an association exists between disclosure about HD and psychological adaptation to HD. HD is reported to be one of the conditions most frequently involved in cases of nondisclosure about genetic risk. Little is known about the extent of disclosure and the process of disclosure within the HD population. Evidence suggests that a relationship may exist between disclosure of one's condition to others and psychological adaptation to the condition; however, this theory has never been tested. The conceptual framework of the study is informed by Shelly Taylor's Theory of Cognitive Adaptation. We will use a cross-sectional survey to 1) investigate individuals' patterns of disclosure about HD and 2) assess psychological adaptation to HD. Participants will be recruited from HD clinics, HD support groups, HD websites, and HD online mailing listservs. Eligible participants will be asked to complete either a web-based or a paper survey. The main outcome measure is psychological adaptation to HD.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| At-risk | – | –Individuals at-risk for HD |
| Presymptomatic | – | –Presymptomatic carriers of HD |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Presymptomatic carriers of HD \& Individuals at-risk for HD
Key inclusion criteria (4 listed)
- Men and women who self-report:
- Ability to read and write English
Key exclusion criteria (4 listed)
- Children younger than 18
- Manifesting HD symptoms, based on self-report
- Received predictive genetic testing within the past 6 months
- Received predictive genetic test result indicating the absence of the gene expansion
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
Social Network Measure Developed Specifically for this Study
Time frame: Enrollment
To explore what factors influence decisions about disclosure of HD carrier or risk status in the target population
Social Network Measure Developed Specifically for this Study
Time frame: Enrollment
To explore relationships between the three domains of disclosure: to whom individuals are disclosing their HD carrier or risk status, when individuals are disclosing their HD carrier or risk status, and what specific information individuals are disclosing to family members, partners, and close friends.
Social Network Measure Developed Specifically for this Study
Time frame: Enrollment
To describe patterns of disclosure in the target population
Psychological Adaptation Scale
Time frame: Enrollment
To examine the relationship between individuals patterns of disclosure about HD and HD risk and their psychological adaptation to HD, taking into account other covariates (gender, age, ethnicity, marital status, level of education, known positive gene carrier versus at-risk, and recruitment source).
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 3 Oct 2023.
- Background: PubMed 15770225Clarke A, Richards M, Kerzin-Storrar L, Halliday J, Young MA, Simpson SA, Featherstone K, Forrest K, Lucassen A, Morrison PJ, Quarrell OW, Stewart H. Genetic professionals' reports of nondisclosure of genetic risk information within families. Eur J Hum Genet. 2005 May;13(5):556-62. doi: 10.1038/sj.ejhg.5201394.
- Background: PubMed 2570293Craufurd D, Dodge A, Kerzin-Storrar L, Harris R. Uptake of presymptomatic predictive testing for Huntington's disease. Lancet. 1989 Sep 9;2(8663):603-5. doi: 10.1016/s0140-6736(89)90722-8.
- Background: PubMed 14872528Figueiredo MI, Fries E, Ingram KM. The role of disclosure patterns and unsupportive social interactions in the well-being of breast cancer patients. Psychooncology. 2004 Feb;13(2):96-105. doi: 10.1002/pon.717.
- Individual participant dataSharing planned: No
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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.
Lori Erby, Ph.D. principal investigator
National Human Genome Research Institute (NHGRI)
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 Huntington's Disease, 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 4 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 3 Oct 2023. 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.
What does the primary outcome measure?
Social Network Measure Developed Specifically for this Study (time frame: Enrollment). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00491842, 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 3 Oct 2023.