$5.2 Million From NIH Boosts Huntington’s Disease Study

December 18, 2002

Physicians based at the University of Rochester Medical Center have received $5.2 million from the National Human Genome Research Institute and the National Institute of Neurological Disorders and Stroke, components of the National Institutes of Health, to continue a nationwide study of patients with Huntington’s disease. It’s one of two large ongoing studies investigating the earliest symptoms that people with the disease experience.

Neurologist Ira Shoulson, M.D., leads the study of 1,000 healthy people who are being recruited at 43 hospitals and medical centers around North America, including Rochester. Shoulson heads a team of University of Rochester physicians who treat Huntington’s patients from more than 200 families in an area that extends west to Cleveland, north into Canada, and includes most of New York State and northern Pennsylvania.

Huntington’s 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 paranoia. 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 led by Shoulson, known as the PHAROS (Prospective Huntington At Risk Observational Study), doctors are closely observing the health of people who have 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.

“Exactly when does Huntington’s disease start? We’ve never been able to answer that question,” says neuropsychologist Peter Como, Ph.D., who is leading the Rochester portion of the study. The study will also help doctors determine which tests are most effective at catching the disease in the earliest phases.

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 none 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 ethics about privacy issues,” Shoulson says.

A second Huntington’s study, just being launched nationwide, will include 625 people at 20 sites in North America, including Rochester. These are people who have had the genetic test; most of the participants will be people who have the gene and know they will someday develop Huntington’s disease, though they don’t have signs of illness yet. During the four years of the study participants will undergo several detailed tests, including MRI scans of the brain, cognitive assessments, physical exams, and neurological and psychiatric testing.

In this study researchers will also compare participants’ symptoms to the specific genetic defect they carry. The defect that causes Huntington’s disease is like a genetic stutter, where a very short specific sequence of DNA on chromosome four is repeated many times. Doctors will compare the number of repeats to a patient’s symptoms and the age when the patient begins experiencing symptoms, in an effort to help future patients know what to expect as the disease progresses.

This study, known as “PREDICT-HD” (Neurobiological Predictors of Huntington’s Disease), is headed by Jane Paulsen, Ph.D., neuropsychologist at the University of Iowa. The $6.8 million study is funded by the National Institute of Neurological Diseases and Stroke, a component of NIH.

Both PHAROS and PREDICT-HD are currently enrolling participants, who must be at least 26 years old and have or had had a parent with Huntington’s disease. Participants who choose not to know their genetic status are eligible for the PHAROS study; participants who have had the DNA test for the Huntington’s gene are eligible for PREDICT-HD.

The studies are being done through the Huntington Study Group (HSG), which is based at the University of Rochester Medical Center. Anyone interested in more information on PHAROS or PREDICT-HD should call 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.

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