Huntington DiseaseNCT00539747
Making Sense of a Positive Genetic Test Result for Huntington Disease
An observational study of Huntington Disease, run by National Human Genome Research Institute (NHGRI) at 4 sites in United States.
Trial summary
This exploratory study will examine ways in which individuals approach a positive genetic test for Huntington Disease (HD). HD is a neurodegenerative disorder that causes emotional, cognitive, and movement problems, and currently there is no way to prevent, stop or reverse the progression of the disease. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Huntington Disease
- How many people
- 50 participants
- Where
- 4 sitesUnited States
- Study dates
- 1 Oct 2007to 5 Aug 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 18 years or older
- Able to speak and understand English
- Received results that they believe are positive at least one month ago
- Perceive themselves to be asymptomatic
- Willing and able to read and describe the consent form before the phone interview
Who cannot join
- Test result less than a month ago
- Believe that they got a negative test result
- Believe themselves to be symptomatic
- Obvious symptoms of dementia or serious mental illness that would preclude consent
Trial locations and contacts
4 sites in 1 country.
United States4 sites
Johns Hopkins University
Baltimore, Maryland, 21205
National Human Genome Research Institute (NHGRI), 9000 Rockville Pike
Bethesda, Maryland, 20892
Baylor College of Medicine
Houston, Texas, 77030
University of Pittsburgh
Pittsburgh, Pennsylvania, 15261
About this study
Official title: Meaning Making Among Asymptomatic Individuals With a Positive Presymptomatic Genetic Test Result for Huntington Disease
This exploratory study will examine ways in which individuals approach a positive genetic test for Huntington Disease (HD). HD is a neurodegenerative disorder that causes emotional, cognitive, and movement problems, and currently there is no way to prevent, stop or reverse the progression of the disease. It is passed down through a mutation in a normal gene, and each child of an HD parent has a 50-50 chance of inheriting the HD gene. The study is designed to explore how individuals adjust to their new genetic status and evaluate any perceived mental or emotional barriers to that adjustment. Currently, little is known about how individuals come to terms with a positive genetic test result for a condition that has no known cure or effective treatment. The results of this study may give health care providers and counselors more information about how to help patients who are at risk for developing HD make sense of their new genetic status.
Candidates will be prescreened and referred to the study by clinics that specialize in genetic testing and counseling. Candidates must be 18 years old or older and must have received a positive genetic test result for HD at least one month prior to the study. They must also perceive themselves to be asymptomatic-that is, without existing HD symptoms.
During the study, participants will be interviewed and asked a series of questions about their decision to pursue testing, their life since the testing, and the things that they have found helpful or unhelpful since receiving the test results. The interviews will be recorded and will last approximately 60 minutes. Participants also will receive a follow-up phone call within two to three days to ensure their general psychological well-being after the interview.
Read the detailed description
Huntington Disease (HD) is a progressive neurological condition, eventually leading to death. Presymptomatic, predictive genetic testing can inform individuals of their genetic status. A positive genetic test result can be a threatening event. In adapting to threatening events people often try and find meaning in the experience. Meaning making refers to the attempt to understand an event or experience and its significance in the context of one's life. The search for meaning can eventually lead to acceptance of an event or experience, and is considered an important component of adaptation. Although it has been established that testing for HD can be a significantly stressful event, and that meaning making is a frequent response towards adaptation, little is known about this process among individuals faced with a positive genetic test result for HD. This study will describe meaning making in a population of presymptomatic individuals with a positive genetic test result for HD.
Semi-structured interviews will be conducted, recorded, transcribed, and analyzed. A typology of common themes will be compiled and reported. Data gathered from these interviews will improve understanding of the phenomenon of meaning making in this population, and will contribute to the existing literature on the role of meaning making in cognitive adaptation. This study will specifically help gain insight into the process of meaning making among individuals who have tested positive for HD, and may potentially inform the ways in which health care professionals can help facilitate meaning-making among this population, in their process of adaptation to a stressful live event.
- Conditions
- Huntington Disease
- Keywords
- Presymptomatic, Huntington Disease, Meaning Making, Genetic Testing, HD
- Medical subject headings
- Huntington Disease
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Oct 2007 (estimated)
- Study start1 Oct 2007
- Study completion5 Aug 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 Huntington 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
- Time perspective
- Retrospective
- Enrolment
- 50 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
- NCT00539747
- Sponsor's protocol ID
- 999908005
- Other IDs
- 08-HG-N005
- Status last verified
- 5 Aug 2008
- First submitted
- 4 Oct 2007
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Daaleman TP, Frey BB, Wallace D, Studenski SA. Spirituality Index of Well-Being Scale: development and testing of a new measure. J Fam Pract. 2002 Nov;51(11):952.
PubMed 12485549Decruyenaere M, Evers-Kiebooms G, Cloostermans T, Boogaerts A, Demyttenaere K, Dom R, Fryns JP. Psychological distress in the 5-year period after predictive testing for Huntington's disease. Eur J Hum Genet. 2003 Jan;11(1):30-8. doi: 10.1038/sj.ejhg.5200913.
PubMed 12529703Bowes DE, Tamlyn D, Butler LJ. Women living with ovarian cancer: dealing with an early death. Health Care Women Int. 2002 Feb;23(2):135-48. doi: 10.1080/073993302753429013.
PubMed 11868961
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
- Meaning Making Among Asymptomatic Individuals With a Positive Presymptomatic Genetic Test Result for Huntington Disease
- ClinicalTrials.gov ID
- NCT00539747
- Acronym / sponsor ID
- 999908005
- Conditions
- Huntington Disease
- Keywords
- Presymptomatic, Huntington Disease, Meaning Making, Genetic Testing, HD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 1 Oct 2007
- Study completion
- 5 Aug 2008
- First posted
- 5 Oct 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 exploratory study will examine ways in which individuals approach a positive genetic test for Huntington Disease (HD). HD is a neurodegenerative disorder that causes emotional, cognitive, and movement problems, and currently there is no way to prevent, stop or reverse the progression of the disease. It is passed down through a mutation in a normal gene, and each child of an HD parent has a 50-50 chance of inheriting the HD gene. The study is designed to explore how individuals adjust to their new genetic status and evaluate any perceived mental or emotional barriers to that adjustment. Currently, little is known about how individuals come to terms with a positive genetic test result for a condition that has no known cure or effective treatment. The results of this study may give health care providers and counselors more information about how to help patients who are at risk for developing HD make sense of their new genetic status.
Candidates will be prescreened and referred to the study by clinics that specialize in genetic testing and counseling. Candidates must be 18 years old or older and must have received a positive genetic test result for HD at least one month prior to the study. They must also perceive themselves to be asymptomatic-that is, without existing HD symptoms.
During the study, participants will be interviewed and asked a series of questions about their decision to pursue testing, their life since the testing, and the things that they have found helpful or unhelpful since receiving the test results. The interviews will be recorded and will last approximately 60 minutes. Participants also will receive a follow-up phone call within two to three days to ensure their general psychological well-being after the interview.
Detailed description
Huntington Disease (HD) is a progressive neurological condition, eventually leading to death. Presymptomatic, predictive genetic testing can inform individuals of their genetic status. A positive genetic test result can be a threatening event. In adapting to threatening events people often try and find meaning in the experience. Meaning making refers to the attempt to understand an event or experience and its significance in the context of one's life. The search for meaning can eventually lead to acceptance of an event or experience, and is considered an important component of adaptation. Although it has been established that testing for HD can be a significantly stressful event, and that meaning making is a frequent response towards adaptation, little is known about this process among individuals faced with a positive genetic test result for HD. This study will describe meaning making in a population of presymptomatic individuals with a positive genetic test result for HD.
Semi-structured interviews will be conducted, recorded, transcribed, and analyzed. A typology of common themes will be compiled and reported. Data gathered from these interviews will improve understanding of the phenomenon of meaning making in this population, and will contribute to the existing literature on the role of meaning making in cognitive adaptation. This study will specifically help gain insight into the process of meaning making among individuals who have tested positive for HD, and may potentially inform the ways in which health care professionals can help facilitate meaning-making among this population, in their process of adaptation to a stressful live event.
Study design
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- 18 years or older
- Able to speak and understand English
- Received results that they believe are positive at least one month ago
- Perceive themselves to be asymptomatic
- Willing and able to read and describe the consent form before the phone interview
Key exclusion criteria (4 listed)
- Test result less than a month ago
- Believe that they got a negative test result
- Believe themselves to be symptomatic
- Obvious symptoms of dementia or serious mental illness that would preclude consent
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 12485549Daaleman TP, Frey BB, Wallace D, Studenski SA. Spirituality Index of Well-Being Scale: development and testing of a new measure. J Fam Pract. 2002 Nov;51(11):952.
- Background: PubMed 12529703Decruyenaere M, Evers-Kiebooms G, Cloostermans T, Boogaerts A, Demyttenaere K, Dom R, Fryns JP. Psychological distress in the 5-year period after predictive testing for Huntington's disease. Eur J Hum Genet. 2003 Jan;11(1):30-8. doi: 10.1038/sj.ejhg.5200913.
- Background: PubMed 11868961Bowes DE, Tamlyn D, Butler LJ. Women living with ovarian cancer: dealing with an early death. Health Care Women Int. 2002 Feb;23(2):135-48. doi: 10.1080/073993302753429013.
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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.
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Huntington Disease, run by National Human Genome Research Institute (NHGRI) at 4 sites 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 5 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 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 4 sites 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 NCT00539747, 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.