Prospective Huntington At Risk Observational Study

NCT ID: NCT00052143

Last Updated: 2024-09-03

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 1001 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 1999-07-09
• Study Completion Date: 2009-12-17

Brief Summary

The purpose of this study is to define the natural history and experiences of people who are at risk for developing Huntington's disease but who do not know their genetic status.

Detailed Description

Huntington's disease (HD) is a genetic disease characterized by changes in movement and behavior. To date, little research has been done on individuals who are at risk for developing the disease. PHAROS is an observational study designed to monitor people who are at risk for developing HD, and to survey their attitudes and beliefs about their "at-risk" status. Investigators hope this study will help answer some important questions about HD, such as: 1.) What are the earliest signs of HD and when do they start? 2.) How accurate are the measures that physicians use in detecting the onset of HD? 3.) What factors influence the age at which a person carrying the HD gene develops the illness? and 4.) 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?

Participants in the study will be evaluated every 9 months (for 5 years) using the Unified Huntington's Disease Rating Scale (UHDRS)--a clinical tool which looks at movement, psychological and behavioral function. The participants will also be asked to complete surveys about their mood, life events, and attitudes or beliefs about being at risk for HD. A blood sample, taken at the beginning of the study, will be confidentially tested to determine if the participant has the abnormal gene for HD. Neither the participant nor any of the PHAROS physicians or coordinators will learn the results of individual gene tests.

The scientists hope that this study will provide essential information for future trials of experimental drugs for HD.

Conditions

Huntington Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Men and women between 26-55 years of age;
• Who are at risk for HD by virtue of having (or had) a parent or sibling 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;
• Agree to blinded (sample will be coded) genetic testing of the HD gene; and
• Who have never been diagnosed with HD.

Exclusion:

Individuals Who:

• have been diagnosed with HD;
• are taking antipsychotic medications;
• use antiemetic (anti-nausea) medications with on a regular basis (greater than 3 times per month); or
• exhibit clinical signs/symptoms of psychosis at the screening visit

• Minimum Eligible Age: 26 Years
• Maximum Eligible Age: 55 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role: collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: collaborator

Huntington Study Group

NETWORK

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Ira Shoulson, M.D.

Role: PRINCIPAL_INVESTIGATOR

University of Rochester

Locations

University of Alabama

Birmingham, Alabama, United States

Mayo Clinic Arizona

Phoenix, Arizona, United States

University of California at San Diego

La Jolla, California, United States

UCLA School of Medicine

Los Angeles, California, United States

University of California, Davis

Sacramento, California, United States

Colorado Neurological Institute

Englewood, Colorado, United States

University of Connecticut

Hartford, Connecticut, United States

Institute for Neurodegenerative Disorders

New Haven, Connecticut, United States

University of Miami School of Medicine

Miami, Florida, United States

University of South Florida

Tampa, Florida, United States

Emory University

Atlanta, Georgia, United States

Rush University Medical Center

Chicago, Illinois, United States

Indiana University School of Medicine

Indianapolis, Indiana, United States

University of Iowa

Iowa City, Iowa, United States

University of Kansas Medical Center

Kansas City, Kansas, United States

Hereditary Neurological Disease Center

Wichita, Kansas, United States

Johns Hopkins University

Baltimore, Maryland, United States

University of Maryland at Baltimore

Baltimore, Maryland, United States

Boston University School of Medicine

Boston, Massachusetts, United States

Massachusetts General Hospital

Boston, Massachusetts, United States

University of Michigan

Ann Arbor, Michigan, United States

Hennepin County Medical Center

Minneapolis, Minnesota, United States

Washington University School of Medicine

St Louis, Missouri, United States

UMDNJ Huntington Disease Service Center

Stratford, New Jersey, United States

Albany Medical College

Albany, New York, United States

North Shore-LIJ Health System

Manhasset, New York, United States

Columbia University

New York, New York, United States

University of Rochester

Rochester, New York, United States

Wake Forest University Baptist Medical Center

Winston-Salem, North Carolina, United States

Ohio State University

Columbus, Ohio, United States

Oregon Health and Science University

Portland, Oregon, United States

University of Pennsylvania

Philadelphia, Pennsylvania, United States

NeuroHealth Parkinson's Disease Movement Disorders Center

Pawtucket, Rhode Island, United States

Baylor College of Medicine

Houston, Texas, United States

University of Virginia

Charlottesville, Virginia, United States

University of Washington and VA Puget Sound

Seattle, Washington, United States

Medical College of Wisconsin-Milwaukee

Milwaukee, Wisconsin, United States

University of Calgary

Calgary, Alberta, Canada

University of Alberta

Edmonton, Alberta, Canada

University of British Columbia

Vancouver, British Columbia, Canada

The Centre for Addiction and Mental Health

Markham, Ontario, Canada

Hotel-Dieu Hospital-CHUM

Montreal, Quebec, Canada

Countries

United States; Canada

References

Huntington Study Group PHAROS Investigators. At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled. Arch Neurol. 2006 Jul;63(7):991-6. doi: 10.1001/archneur.63.7.991.

Reference Type: BACKGROUND

PMID: 16831969 (View on PubMed)

Oster E, Dorsey ER, Bausch J, Shinaman A, Kayson E, Oakes D, Shoulson I, Quaid K; Huntington Study Group PHAROS Investigators. Fear of health insurance loss among individuals at risk for Huntington disease. Am J Med Genet A. 2008 Aug 15;146A(16):2070-7. doi: 10.1002/ajmg.a.32422.

Reference Type: DERIVED

PMID: 18627059 (View on PubMed)

Other Identifiers

R01HG002449

Identifier Type: NIH

Identifier Source: org_study_id

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