Physicians at the University of California, San Diego (UCSD) are taking part in a nationwide study investigating the earliest symptoms that people with Huntington’s disease experience.
Huntington’s Disease is an inherited disorder that affects about 30,000 people in the United States; another 150,000 people or so may have the gene that causes the disease. The defective gene leads to the destruction of brain cells, causing involuntary movements, cognitive problems, and often psychological problems like depression and irritability. The disease usually strikes in young-to mid-adulthood, in a patient’s 30s or 40s. The disease is fatal, and currently there is no way to slow its development.
In the study known as PHAROS (Prospective Huntington At Risk Observational Study), doctors at 43 hospitals and medical centers around North America, including the University of California, San Diego, are closely observing the health of 1,000 healthy people who have or have had a parent with the disease. While a genetic test is available that tells patients whether they will develop Huntington’s, the study is focusing on people who have not had the test and do not want to know their genetic status. Participants will be monitored from four to seven years as doctors and nurses try to discover the very first signs of the disease and determine which tests are most effective at catching the disease in the earliest phases.
One of the subjects participating in PHAROS noted, “There is a saying, Where there is despair, there is no hope. I am participating in PHAROS because it can bring hope, and we need hope.”
A big part of the study is examining how people feel about the availability of their genetic information. Neither the participants nor the researchers will be aware of the participant’s genetic status, and non of the clinical or DNA data will contain any personal identifiers, to ensure the privacy of participants. Nurses and doctors will also check how comfortable people are with granting access to sensitive genetic information, and participants will give the team feedback on how well they think their genetic information is protected.
“This is the first study to monitor people at high risk for developing a fatal genetic disease and to survey their attitudes and beliefs and ethnics about privacy issues,” says neurologist Ira Shoulson, M.D., of the University of Rochester Medical Center. Shoulson is leading the study, which is funded by the National Human Genome Research Institute and the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (NIH), which recently committed $5.5 million to fund the study.
The study is currently enrolling participants, who must be at least 26 years old (but not older than 55) and have or have had a parent with Huntington’s disease. The work is being done through the Huntington Study Group (HSG) which is based at the University of Rochester Medical Center, and locally, through the UCSD Huntington’s Disease Research Program, headed by Dr. Jody Corey-Bloom. Anyone interested in more information should call Jody Goldstein at UCSD (858-622-5854), the Huntington Study Group toll-free at 800-487-7671, or check http://www.huntington-study-group.org. HSG is supported by the Huntington’s Disease Society of America, the Hereditary Disease Foundation, the Huntington Society of Canada, and the High Q Foundation.