Prospective Huntington At Risk Observational Study (PHAROS)

PHAROS is a Clinical Research Study by the Huntington Study Group (HSG).

Overview

The PHAROS Project is an observational study in North America (US and Canada) of people ages 26 to 55 who are at risk for Huntington's Disease. During the study, subjects will be evaluated every nine (9) months (for a minimum period 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. The study is ongoing. Enrolment is closed.

Who is at risk for Huntington's Disease (HD)?

Huntington's Disease (HD) is an inherited (genetic) disease characterized by changes in movement and intellect. HD is estimated to affect 30,000 individuals. Another 150,000 persons are at risk for HD by virtue of having a parent or sibling affected with HD. The illness typically becomes recognizable in middle adult life.

What is a clinical trial?

A clinical trial (study) is the most effective method for estimating the medical value of promising treatments. By design, it provides the necessary confidence and safeguards for learning whether medications do what they are supposed to do. There are also observational studies or trials where people are examined periodically but receive no experimental drugs or treatments.

What is the PHAROS Project?

The PHAROS Project is an observational study in North America (US and Canada) of people ages 26 to 55 who are at risk for Huntington's Disease. During the study, subjects will be evaluated every nine (9) months (for a minimum period 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 abnormalgene 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 eligible to participate in PHAROS?

Individuals:

• Between 26 to 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 HD in persons at risk for the illness.

How do I find out more information about participating in the PHAROS Study?

Participant recruitment is now complete. If you are interested in learning more about this study, please contact either Joji Decolongon at +1 (604) 822-7928, the Huntington's Study Group toll free number at +1 (800) 487-7671, or online athttp://www.huntington-study-group.org/.

PHAROS Participating Sites

Albany Medical ColleRush-Presbyterian-St. Luke's Medical Center, Chicago,IL
UCLA School of Medicine, Los Angeles, Cage, Albany NY
Baylor College of Medicine, Houston, TX
Boston University School of Medicine, Boston, MA
Colorado Neurological Institute, Englewood, CO
Columbia University, New York, NY
Emory University, Atlanta, GA
Hennepin County Medical Center, Minneapolis, MN
Hereditary Neurological Disease Center, Wichita, KS
Indiana University School of Medicine, Indianapolis, IN
Johns Hopkins University, Baltimore, MD
Markham Health Centre, Markham, Ontario
Massachusetts General Hospital, Boston, MA
Mayo Clinic, Scottsdale, AZ
Medical College of Wisconsin, Milwaukee, WI
Memorial Hospital of Rhode Island, Pawtucket, RI
Montreal General Hospital, Montreal, Quebec
North Shore University Hospital, Manhasset, NY
Ohio State University, Columbus, OH
Oregon Health amp, Science University, Portland, OR
University of Connecticut, Hartford, CT
UMDNJ Robert Wood Johnson Medical Center, Stratford, NJ
University of Alabama at Birmingham, Birmingham, AL
University of Alberta, Edmonton, Alberta
University of British Columbia, Vancouver, BC
University of Calgary Medical Clinic, Calgary, Alberta
University of California, Davis, Sacramento, CA
University of California, San Diego, LaJolla, CA
University of Iowa, Iowa City, IA
University of Kansas Medical Center, Kansas City, KS
University of Maryland, Baltimore, MD
University of Miami School of Medicine, Miami, FL
University of Michigan, Ann Arbor, MI
University of Pennsylvania, Philadelphia, PA
University of Rochester, Rochester, NY
University of South Florida, Tampa, FL
University of Toronto, Markham, Ontario
University of Virginia, Charlottesville, VA
University of Washington and VA Puget Sound;Seattle, WA
Wake Forest University School of Medicine, Winston-Salem, NC
Washington University School of Medicine, St. Louis, MO
Winnipeg Clinical, Winnipeg, Manitoba
Yale University School of Medicine, New Haven, CT

This study is under the direction of the Huntington Study Group (HSG). The HSG is an international consortium of more than 200 clinical investigators, coordinators, scientists and staff from 55 participating hospitals and universities in North America, Europe and Australia. The HSG is supported by the Huntington's Disease Society of America (New York, New York), the Hereditary Disease Foundation (Santa Monica, CA) and the Huntington Society of Canada (Cambridge, Ontario). Formed in 1993, the HSG strives to advance knowledge about the cause, process and clinical impact of HD in order to develop and test promising therapeutic interventions.

PHAROS Steering Committee

Ira Shoulson, Principal Investigator
Anne B. Young, Co-Principal Investigator
Steven Hersch
Penny Hogarth
Elise Kayson
Karl Kieburtz
Karen Marder
David Oakes
Jane Paulsen
Aileen Shinaman
Eric Siemers
Hongwei Zhao