Huntington’s disease could help map and treat other hereditary diseases

By Todd Cohen

[Note: This article was written for on behalf of HD Reach.]

CHARLOTTE, N.C. — Huntington’s disease, a relatively rare and fatal inherited brain disease known as HD, could serve as a model for gaining insights into other hereditary diseases, ranging from breast cancer to dementia, that affect millions of people.

“The average person has inherited six or seven genetic risks, most of them potential burdens they don’t know about,” says Dr. Ira Shoulson, professor of neurology, pharmacology and human science at Georgetown University, and founder and chairman of the Huntington Study Group, or HSG, an international network of clinical researchers who study and care for patients and families with HD.

Although it affects only about 30,000 people in the U.S., HD “in fact has implications for a variety of more common hereditary disorders,” says Shoulson, who also serves as director of the Program for Regulatory Science and Medicine at Georgetown.

Clinical research on HD, now conducted at over 105 credentialed sites in the U.S., Canada, Australia, New Zealand, Europe and South America, will highlight the 7th Annual HSG Clinical Research Symposium and Workshops on November 9, following two days of educational and training programs for researchers and clinicians on November 7 and 8.

The international gathering, jointly sponsored by Huntington Study Group and Charlotte AHEC, will be held at the Omni Hotel in Charlotte and will be open to HD patients, families, caregivers, researchers and medical professionals.

Workshops will include networking for regional doctors and health care providers, continuing education for medical professionals, and training programs for service providers, caregivers and local practitioners.

The symposium will feature reports on the latest research on Huntington’s disease, an inherited brain disorder that affects control of movement, thought and behavior.

Following the symposium will be an interactive community workshop, including discussions between patients, their families and researchers.

Sessions will examine issues of local social and medical care that affect caregivers who treat HD patients and families, including the work of groups such as HD Reach, a North Carolina-based nonprofit that has pioneered models to make sure patients and families throughout the state, particularly in rural areas, have access to HD care and resources.

A key focus will be on “progress being made to understand what [the HD] gene does or doesn’t do, so we can develop more rational therapies,” Shoulson says. “Our motto is, ‘Seeking treatment that makes a difference for HD patients and families.”

HD typically results in death 15 to 25 years after onset of motor signs of the disease.

HSG-conducted research, which over the past 20 years has included over 30 cooperative studies, receives sponsorship from government and private funds totaling several million dollars a year, Shoulson says.

That research, he says, has resulted in the development of one drug, tetrabenazine (Xenazine), which was developed by HSG and approved by the Federal Drug Administration in December 2009 for treatment of chorea, or involuntary movements in HD.

Six clinical trials that have enrolled a total of roughly 2,000 patients currently are underway.

“Incremental progress is being made,” Shoulson says. “We’re really looking now at therapies, not just to treat involuntary movements, but also some of the cognitive or intellectual impairment that develops in HD patients, and also some of the behavioral problems that develop.”

Shoulson was part of a research team, supported with funding from the National Institutes of Health, that in 1993 first identified the HD gene through blood tests on a large family in Venezuela that had HD.

“We knew it was a genetic disorder because of the hereditary patterns,” he says. “By identifying the gene, we could better understand what the gene was doing so we could develop treatments, and help people at risk of HD who choose to learn of their gene status.”

And HD research, which is sponsored by government, foundations and industry, has implications for research on a broad range of other diseases, he says.

“As we unravel the human genome, we’re learning more and more about hereditary disorders that have relevance to HD,” Shoulson says. “Down the line, we will have more information, so people should be attentive to what we learn in HD because it may affect them.”

Critical to HD research and clinical trials, he says, is the “need to have people volunteer to participate in these studies all over the world, including the North Carolina region.”

In contrast to HD, which results from a single abnormal gene, the origins of many diseases such as Alzheimer’s, Parkinson’s and Amyotrophic lateral sclerosis, or ALS, also known as Lou Gehrig’s disease, are largely unknown.

Because the average person has a handful of genetic risks, and because HD has implications for many common disorders such as Alzheimer’s and Parkinson’s, HD research is critical, yet it is a continuing challenge to find volunteers to participate in HD clinical trials, Shoulson says.

“The challenge is how to do this interesting, important research in a relatively small community of research participants and advocates,” he says. “How we deal with these new genetic risks that we learn about will be an important model for living with other genetic burdens that people will learn about through advancing technology.”

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