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Individuals Patterns of Disclosure About Huntington s Disease (HD) and the Association With Adaptation to HD

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00491842
Recruitment Status : Completed
First Posted : June 26, 2007
Last Update Posted : April 11, 2019
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Brief 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.

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.

Condition or disease
Huntington's Disease

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.

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Study Type : Observational
Actual Enrollment : 315 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Individuals' Patterns of Disclosure About Huntington's Disease and Association With Adaptation to HD
Study Start Date : June 22, 2007

Resource links provided by the National Library of Medicine

Individuals at-risk for HD
Presymptomatic carriers

Primary Outcome Measures :
  1. Social Network Measure Developed Specifically for this Study [ Time Frame: Enrollment ]
    To describe patterns of disclosure in the target population

  2. 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

  3. 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.

  4. Psychological Adaptation Scale [ Time Frame: Enrollment ]
    To examine the relationship between individuals patterns of disclosure about HD and HD risk and their psychological adaptation toHD, taking into account other covariates (gender, age, ethnicity, marital status, level of education, known positive gene carrier versus at-risk, and recruitment source)

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 150 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Presymptomatic carriers of HD & Individuals at-risk for HD
  • 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


  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00491842

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United States, Maryland
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
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Principal Investigator: Lori Erby, Ph.D. National Human Genome Research Institute (NHGRI)

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Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT00491842     History of Changes
Other Study ID Numbers: 999907179
First Posted: June 26, 2007    Key Record Dates
Last Update Posted: April 11, 2019
Last Verified: December 4, 2018

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Huntington's Disease
Huntington Disease
Phone Interview

Additional relevant MeSH terms:
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Huntington Disease
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Cognition Disorders
Neurocognitive Disorders
Mental Disorders