AT-RISK and OBSERVATIONAL RESEARCH STUDIES
Updated: April 2008
Some exciting new initiatives designed to obtain information regarding the symptoms and progression of HD are now underway. The HSG with the support from the Huntington's Disease Society of America (HDSA) and the Hereditary Disease Foundation (HDF), has designed two complementary research observational studies (known as PHAROS and PREDICT-HD) for the at-risk HD population. These studies which are described below are believed to be essential first steps in the development of clinical trials aimed at postponing or preventing the clinical onset of HD.
There is measured optimism that effective treatments will be developed in the near future to slow the progression of the illness in people who have developed the signs and symptoms of HD. Once such treatments become available, a major question will be when to begin therapy in healthy persons who carry the HD gene. Before studies can begin in healthy research participants (who carry the gene but who have no signs or symptoms of the illness) researchers need to systematically examine "at-risk" individuals. This critical information will allow the HSG investigators to develop clinical trials aimed at postponing or preventing the onset of illness.
Am I at risk for Huntington's disease?
You may be at risk for developing Huntington's disease (HD) if either of your parents has/had HD. The gene for developing HD is passed from generation to generation in an autosomal dominant manner. This means if one of your parents has/had HD you may have a 50% chance of developing the disease.
What is an Observational Study?
An observational study is where participants will be interviewed and examined on a regular basis over several years. It does not involve any experimental treatment (drugs).
PHAROS: Prospective Huntington At Risk Observational Study …PHAROS has completed enrollment as of January 2004...Please go to our PHAROS Participating Site List for a site near you, and call toll free 1-800-487-7671 for additional information…
What is the PHAROS Project?
PHAROS aims to define the natural history and experiences of people who are at risk of developing HD and who do not know their gene status. The HSG research sites plan to recruit about 1,000 individuals.
The PHAROS project is an observational study in North America (US and Canada) of people ages 26-55 who are at risk for Huntington's Disease and have never been tested for the HD gene. During the study, subjects will be evaluated every nine (9) months (for a minimum of 3 years) using a clinical survey known as the Unified Huntington's Disease Rating Scale (UHDRS),which looks at movement, psychological and behavioral function.
A blood sample will also be taken at the beginning of the study, and will be confidentially tested to determine if the participant has the gene for HD. Neither the participant nor any of the physicians or coordinators of PHAROS will ever learn the results of individual gene tests.
Why is the HSG observing people at risk for Huntington's Disease?
To date, little research has been done on individuals who are at risk for developing an inherited disease (such as the children of a person with HD). We hope this study will help us to answer some important questions, such as:
- What are the earliest signs of HD and when do they start?
- How accurate are the measures that physicians use in detecting the onset of HD?
- What factors influence the age at which a person carrying the HD gene develops the illness?
- In a group of people at risk for HD, how many will develop signs of the illness over a minimum three-year period of observation?
We hope that this study may provide some essential information for future trials of experimental drugs for HD.Who is elligible to participate in PHAROS?
Individuals:
- Between 26-55 years of age;
- Who are at risk for HD by virtue of having (or having had) a parent with the illness;
- Who have never been tested for the HD gene, and who do not desire to be tested for the HD gene during the duration of the study; and
- Who have never been diagnosed with HD.
My family and/or my employer don't know I'm at risk for HD. How will my confidentiality be maintained?
Confidentiality is a central concern in the PHAROS study, and we have designed the study to protect the confidentiality of research subjects to the fullest extent possible. Names will not appear on the study forms - instead, a code number will be assigned to identify research participants. A bar code (different from the subject code) will be used to identify blood samples and DNA results.
As mentioned previously, DNA results will not be provided to research participants or any of the physicians or staff at the site where the study is being conducted - instead, it will be sent in a coded fashion (which does not identify individuals by name) to a central location at the University of Rochester.
I'm interested in the study, but would prefer not to learn my DNA results or whether I am developing signs of HD. Is it possible to still participate?
Yes. Participants will never learn their DNA results through the PHAROS study, even when the study is complete. (Participants can, of course, arrange for DNA testing at an independent laboratory outside of the study.) Participants will also not be told if they are developing signs of HD. (Again, if participants decide they do want to know this information, they will need to arrange for an evaluation outside of the scheduled PHAROS study visits.)
Are there any risks to me as a participant in PHAROS?
Some psychological stress may occur from participation in PHAROS (due to concern over whether you are showing signs of the illness or whether you have the gene). There are also some minor risks when blood is drawn for the blood sample. These risks are further explained in the consent form, and the research investigator or coordinator can also answer any questions.
What is the benefit to me of participating in PHAROS?
There is no direct health benefit from participating in PHAROS. However, participation may help to provide information useful for a better understanding of the onset of illness in healthy persons at risk for HD.
How do I find out more information about participating in
the PHAROS Study?
As of January 2004, PHAROS has complted enrollment. However, If you are interested in learning more about this study, please contact the Huntington Study Group at our toll-free number
1-800-487-7671
For a participating site near you, please go to our PHAROS Participating Site List
For access to the PHAROS Participant Newsletters, please see
July 28, 2006At Risk for Huntington Disease.
The PHAROS (Prospective Huntington At Risk Observational Study) Cohort EnrolledThe Huntington Study Group PHAROS Investigators
The Huntington Study Group (HSG) PHAROS (Prospective Huntington At Risk Observational Study) investigators reported on the baseline characteristics of this remarkable cohort in the July 2006 issue of the Archives of Neurology (63:991-998). PHAROS is a multi-site, multi-year project that aims to gain knowledge about the early signs of Huntington’s disease (HD) onset and their relationship to environmental and genetic factors. PHAROS is also examining the psychosocial, ethical and practical issues involved in long-term study of adults at 50:50 risk to develop HD who have chosen not to undergo predictive genetic testing to learn of their gene-carrier status.
The PHAROS cohort of 1001 adults at risk for HD is mostly women (65%), well educated, and gainfully employed. At the start of the study, enrolled research participants were characterized as highly functional with minimal, if any, impairment of movement or intellect. Participants have enrolled in PHAROS mindful that the knowledge from this long-term study will help shape the efficient design and appropriate conduct of future clinical trials aimed at delaying the onset of illness in gene carriers who have not yet developed signs of HD. The knowledge from PHAROS will also inform us about how persons at high risk to develop a disabling genetic disease deal with lingering uncertainties about their future health and complex choices about their participation in research.
For more information about this study, please see PHAROS.
Neurobiological Predictors of
Huntington's DiseaseINDIVIDUALS ENCOURAGED TO ENROLL
In September 2001, the Huntington Study Group, under the direction of Jane Paulsen, Principal Investigator (University of Iowa), received funding from the National Institutes of Health (NIH) to study healthy persons who are known to have the CAG expansion in the HD gene.
As of April 14, 2008, the PREDICT-HD study has 1000 participants who dedicate time from their busy lives to contribute to the study. It is our goal to continue to enroll participants in PREDICT-HD. In order to achieve this goal, the study is seeking additional participants to enroll in this important project. Below we have included an additional study description along with contact information about how to become one of our valuable participants.
The PREDICT-HD study uses a variety of tests to examine the nature and pattern of neurobiological changes and neurobehavioral changes that occur in the period leading up to a diagnosis of HD. The intent of the study is to learn more about the beginning changes in thinking skills, emotional regulation, brain structure and brain function as a person begins the transition from health to HD.
Why is PREDICT-HD studying people at risk for Huntington's disease?
• To determine what the earliest signs of HD are and when they begin
• To determine what the most accurate tests are that clinicians can use in detecting the onset of HD
• To determine what factors influence the age at which a person carrying the HD gene develops the illness
We hope that this study may provide some essential information for future trials of experimental drugs for HD. It is necessary to get further information on the early stages of HD in order to develop drugs that can slow or postpone the onset of HD.
Many families have reported that drugs to slow the disease may be more meaningful for at-risk persons. That is, slowing the disease is important to do when a person can remain active in work, parenting and enjoying life (rather than in late stages of HD). We hope this study will help us detect the earliest signs of HD, so that future drug studies can target treatment that may slow the progression or prevent HD.
Who is eligible to participate in PREDICT-HD?
Inclusion Criteria:
• Gene negative and gene positive individuals: specifically, men and women at risk for HD, who have been tested for the HD gene mutation, and who have not been diagnosed with symptoms of HD (CAG>39 for CAG-expanded group or CAG <30 for CAG-norm group).
• 18 years of age or older
• Able to commit to a minimum of 4 yearly evaluations
• Commitment of a companion to attend visits or complete surveys via mail
•Able to undergo a MRI
What if I do not want anyone to know I am at risk for HD? How will my privacy be protected?
Privacy is a central concern in PREDICT-HD, and we have designed the study to protect the confidentiality of research participants to the fullest extent possible. Names will not appear on the study forms - instead, a code number will be assigned to identify research participants. A code (different from the participant code) will be used to identify blood samples and DNA results.
I want to help HD research, but would prefer not to learn whether I am developing signs of HD. Is it possible to still participate?
Yes. Participants will not be told if they are developing signs of HD. If participants decide they do want to know this information, they will need to arrange for an evaluation outside of the PREDICT-HD study visits.
Are there any risks to me as a participant in PREDICT-HD?
Uncertainties of not knowing when HD will start may cause distress. There are some minor risks when blood is drawn for the blood sample. These risks are further explained in the consent form, and the research investigator can answer any questions.
What is the benefit to me of participating in PREDICT-HD?
There is no direct health benefit from participating in PREDICT-HD. However, participation may help to provide important information useful for understanding the onset of HD in persons at risk for the illness.
How do I get more information about participating in the PREDICT-HD Study?
If you are interested in learning more about this study, please contact the Huntington Study Group toll free at 800-487-7671.For a participating site near you, please go to the
The RESPOND-HD observational trial is examing issues of potential discrimination as perceived by those persons affected by Huntington’s disease (HD). The information gathered in this study will allow researchers to examine the experiences of persons who have undergone genetic testing for HD or those persons who are at risk for HD. RESPOND-HD will seek answers to questions such as“How is knowledge used after genetic testing?”, “What experiences occur following genetic testing?” and “Why might outcomes differ in persons undergoing genetic testing?”. Study participants from the PHAROS and PREDICT -HD research trials are being recruited for this study.
RESPOND-HD - Recruitment is now in progress...
Participants for this international, multi-site study are being recruited from domestic geographical areas where there are differing discrimination laws for employment and insurance, and also from foreign sites where health care systems may be different from those in domestic sites.
COHORT: Cooperative Huntington’s Observational
Research TrialThis long-term observational study will initially take place at 40 North American and Australian Huntington Study Group (HSG) sites. The goal of COHORT is to collect information in order to learn more about HD, potential treatments, and to plan future research studies of experimental drugs aimed at postponing the onset or slowing the progression of HD. This study will recruit both adults and children who have clinically diagnosed HD and adults who are a part of an HD family. Individuals who choose to participate will have one study visit every year for as long as they are able and choose to participate. Please refer to the COHORT Participating Site list for sites in your area, or to the COHORT brochure and Press Release for more information.
At each annual visit, all individuals participating in COHORT will be required to have a clinical evaluation. Those who are 18 years of age and older will have blood drawn for genetic testing of the CAG polymorphism and for other genetic changes, which may be important to Huntington’s disease. For those who are 18 years of age and older, there will be optional research procedures including the collection of family history and the collection and storage of blood and urine for future HD research.
Data from the COHORT study will be collected in databases designed to protect the privacy of all those who participate. The data and samples will provide researchers with a valuable resource to address a wide variety of research questions in Huntington’s disease.
To read more about the different aspects of the COHORT study, click the appropriate link:
Clinical Evaluation
Collection of Blood for Genetic Testing
Collection of Family History Information
Collection and Storage of Biological Samples for Future HD Research
Clinical Evaluation
Each year COHORT participants will undergo a medical and neurological evaluation. This evaluation will include standardized assessments of movement, thinking, memory, ability to perform daily activities, and behavior. Also, a medical and neurological examination will be conducted and the participant will provide information about medical history and current medications.Collection of Blood for Genetic Testing
At the initial visit, all COHORT participants who are 18 years of age and older will have blood drawn for genetic testing of the CAG polymorphism and for other genetic changes, which may be important to Huntington’s disease. Since this testing will be experimental, neither the COHORT participants nor the site investigators will receive the results of this testing.Collection of Family History Information (optional)
Family history data will be used to learn more about the natural history of the disease over several generations. This information may uncover new details about why there are differences in how HD affects different families and different members within a family. Any COHORT participant 18 years of age and older with a family history of HD will be asked to participate. This part of the COHORT study is optional. If the participant chooses not to provide family history information, he or she may still take part in the COHORT study.The participant will be asked to complete a Family History Questionnaire (FHQ), which asks questions about the participant’s extended family, including:
• Family members’ names, birthdates, sex, and, if applicable, date of death
• For any affected family members, age of HD diagnosis and whether a physician made the diagnosis will be collected.Collection and Storage of Biological Samples for Future HD Research (optional)
Scientists have found that blood, urine, and other biological samples contain clues about HD that may be used to better understand the progression of the disease and to develop new therapies. Any COHORT participant 18 years of age and older will be given the option of having blood and urine collected and stored for future HD research. If a participant chooses not to participate, he or she may still take part in the COHORT study. These samples will be labeled with a unique identification code and stored in a research facility.These stored samples will provide researchers with the resources necessary to study Huntington’s disease. Huntington’s disease researchers from institutions all over the world will be able to request samples for research in HD. All samples will be identified with a code, and researchers will not receive any personally identifying information about COHORT participants.
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