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Release: Jan. 2, 2002

UI researchers receive $6.4 million grant to study Huntington's disease predictors

IOWA CITY, Iowa -- Slowing a disease before any symptoms are visible may seem like a difficult task. However, University of Iowa Health Care investigators are taking on that challenge for people who will develop Huntington's disease (HD), a hereditary genetic condition that affects the central nervous system and causes significant personality changes, involuntary bodily movements, progressive dementia and early death.

A $6.4 million grant, effective last Sept. 1, from the National Institute of Neurological Disorders and Stroke will allow the UI team to lead a multi-center investigation of early brain and behavioral changes in persons who currently are healthy but have the abnormal genetic mutation for Huntington's disease. The findings could help lead to future trials of experimental drugs to slow HD before symptoms are obvious.

The study is the first to focus on possible treatments for people who carry the genetic markers for HD, but who do not yet have symptoms, and reflects the nation's shift in health care from disease treatment to its prediction and prevention, said Jane S. Paulsen, Ph.D., UI professor of psychiatry, neurology, and psychology, and principal investigator of the study.

Paulsen will lead the recruitment and investigation of 500 persons at risk for HD who will be seen at 20 study sites throughout the United States and Canada. Recruitment for the study, known as PREDICT-HD (Neurobiological Predictors of Huntington's Disease), will begin in 2002. Individuals who carry the genetic mutation that causes HD almost invariably develop the disease unless they first die of some other cause.

"Although all current treatments for HD are aimed at reducing symptoms, slowed disease progression and delayed onset of disease have been demonstrated in animal models," Paulsen said.

"As treatments become available for genetic disease, healthy persons who are at risk want to see whether certain measures can prevent the onset of disease. Before neuropreventive therapy for HD can begin, however, we must determine the answer to two essential questions."

Paulsen said the first question is, "When should preventive therapy be started?" and the second is, "How can we determine whether a treatment actually is stalling disease onset?"

To address these concerns, the PREDICT-HD study will obtain brain scans and sophisticated measures of brain processing in healthy persons who have the defective HD gene to detect the earliest indicators of disease.

Preliminary studies suggest that people with HD may have significant decline prior to actual clinical diagnosis of the disease. The study will help reveal which factors influence the age at which a person carrying the HD gene develops the condition.

Huntington's disease typically strikes people from ages 30 to 55 and, over a 15 to 30-year period, dramatically reduces their ability to think, make sound judgments and control their emotions and coordination.

The condition affects nearly 30,000 Americans and puts another 250,000 at risk. HD is the only lethal genetic disease known in humans that is dominantly inherited. This means that in a person with HD, one defective gene (inherited from one parent) dominates the normal gene (inherited from the other parent) and causes the person to have the condition. A child who has one parent with HD has a 50 percent chance of inheriting the disorder.

Other lethal genetic diseases, such as cystic fibrosis, are recessive and thus require two copies of a mutated gene (one from each parent) for a person to inherit the condition.

For more than 12 years, Paulsen's lab has focused on identifying the subtle neuropsychological characteristics of Huntington's disease in its very early stages. Her work is part of the UI Huntington's Disease Center of Excellence, a designation awarded by the Huntington's Disease Society of America. Paulsen co-directs the center, along with Henry L. Paulson, M.D., Ph.D., UI assistant professor of neurology, and Robert Rodnitzky, M.D., UI professor of neurology.

In addition to PREDICT-HD study, the UI center has other studies in progress on HD and its effects on individuals and families at risk or already affected by disease.

The PREDICT-HD study is endorsed by the Huntington Study Group, a collaborative international research team which is supported by the Huntington's Disease Society of America in New York; the Huntington's Disease Society of Canada, Cambridge, Canada; and the Hereditary Disease Foundation of Santa Monica, Calif.

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