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ATLANTA -- Researchers at Emory University are taking part in two large studies to investigate the earliest symptoms of Huntington’s disease (HD). Investigators hope to learn which tests are most effective in detecting the disease, and to learn more about how and when successive symptoms develop in the course of the disease.
Huntington’s is an inherited disorder that affects about 30,000 people in the United States. Another 150,000 people are believed to have the gene that causes the disease, but have not yet begun to show clinical symptoms. The defective gene leads to the destruction of brain cells, causing involuntary movements, cognitive problems and psychological problems like depression and paranoia. The disease usually strikes in young- to mid-adulthood, during a person’s 30s or 40s. The disease is fatal and currently there is no way to slow its development.
In a study known as PHAROS (Prospective Huntington At Risk Observational Study), researchers at 43 hospitals and medical centers around North America, including Emory University, are closely observing 1,000 healthy 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 researchers try to discover the very first signs of HD and determine which tests are most effective at detecting the disease in the earliest phases.
A large 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. Researchers also hope to determine how comfortable people are with granting access to sensitive genetic information, and participants will give feedback on how well they think their genetic information is protected.
"PHAROS is the first study to monitor people at risk for developing a fatal genetic disease," says Claudia Testa, MD, PhD, assistant professor of neurology, Emory University School of Medicine and the site investigator for PHAROS at Emory. "The study will help us define the earliest symptoms of Huntington’s disease, information critical to designing new early treatment drug trials. PHAROS is uniquely valuable, because it provides new insights into how patients at risk choose to handle genetic information and privacy issues, and how we as researchers can best learn from at-risk groups. This important contribution from at-risk participants both significantly advances efforts to defeat Huntington’s disease, and also leads the way for all other patient and researcher groups interested in inherited diseases."
With the help of a $5.5 million grant, the PHAROS study 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).
A second Huntington’s study, just being launched nationwide, will include 625 people at 20 sites in North America, including Emory. This study is known as PREDICT-HD (Neurobiological Predictors of Huntington’s Disease). Participants in this study must have had the HD genetic test. Most of the participants will be people who have the gene and know they will someday develop Huntington’s disease, though they do not have signs of illness yet. During the four years of the study, participants will undergo 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. Researchers will compare the number of repeats to a patient’s symptoms and the age at which the patient begins experiencing symptoms, in an effort to help future patients know what to expect as the disease progresses.
"This observational study for gene carriers, who show no clinical signs of Huntington's disease, is a groundbreaking research effort, " says Randi Jones, PhD, clinical director for the Huntington’s Disease Society of America (HDSA) Center of Excellence at Emory. "It is critical that we observe those who carry the gene over a long period of time, to ascertain the first clinical symptoms of HD. This study will provide invaluable information that will influence future clinical trials targeting those who are positive for the HD gene." This study is funded by the National Institute of Neurological Diseases and Stroke, a component of NIH, and the High Q Foundation, a foundation which funds Huntington’s research.
Both studies are currently enrolling participants, who must be at least 26 years of age and have or have 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. Patients already showing signs of Huntington’s disease are not eligible for these studies.
"Participation by individuals at risk for HD in either of these studies will provide a truly significant contribution in reaching the goal of a treatment and cure for this devastating disease," says Dr. Jones.
For more information about the PHAROS or PREDICT-HD studies, call Joan Harrison, RN, at (404) 728-6364. The Huntington Study Group (HSG), based at the University of Rochester Medical Center, is leading the trials. To learn more about the HSG, access the website at 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.