The Huntington Study Group Symposium in Charlotte, NC ends with optimism and resolve in the battle against Huntington’s disease.
Better care and treatment are evolving for patients with Huntington’s disease, a relatively rare inherited brain disease that results in death and has big implications for other more common hereditary diseases, according to experts attending an international HD conference in Charlotte.
“Our three-day conference provided a remarkable opportunity for researchers, clinicians, care providers, patients and families to join together to work on this really challenging disease,” said Dr. Ira Shoulson, professor of neurology, pharmacology and human science at Georgetown University and leader of the Huntington Study Group, or HSG, an international network of clinical researchers who study and care for patients and families with HD. “We see the pace of better treatments to be increasing very soon.”
Some of the world’s leading experts on the disease were among over 425 HD researchers, doctors, clinicians, caregivers and families from eight nations and 24 states, and from communities throughout North Carolina, who attended the 7th Annual Huntington Study Group Clinical Research Symposium and Workshops, held November 7-9 at the Omni Hotel and sponsored by HSG and Charlotte AHEC.
New treatments on horizon
Dr. Mary Edmondson, president of HD Reach, a North Carolina-based nonprofit, says new treatment for disease symptoms “does not appear to be far away,” and that developing future treatments will require closer collaboration among investigators, clinicians, patients and others.
HD Reach, which works to help all HD patients and families in North Carolina gain access to knowledgeable health care and manage the disease, is developing local “HD communities” that will link treating physicians and families in five regions of the state, says Edmondson, a clinical associate in psychiatry at Duke University in Durham.
“We’d really like to have a community health care network so that people don’t have to travel so far to come to HD clinics,” she says. “We strive to continually improve the opportunity to participate in research, and our ability to provide expert consultations for people affected by HD. Even if the patients can’t get to see us all the time, we can help their primary care doctor at home.”
Although it affects only about 30,000 people in the U.S., HD is the focus of pioneering work expected to have enormous impact on more common hereditary diseases, such as Alzheimer’s and Parkinson’s, because anyone who carries the disease form of the HD gene is certain to get the disease.
“It’s a model for genetic disease,” said Shoulson, who was part of a research team that in 1993 first identified the HD gene through blood tests on a large family in Venezuela that had HD.
“As we unravel the genetic human genome, more and more of us will understand the risks that we have for, if not Huntington’s disease, other diseases,” he said. “So I think we are, in a way, pioneering that important effort.”
HSG-conducted research over the past 20 years has included over 30 cooperative studies. Six clinical trials that have enrolled about 2,000 patients currently are underway.
North Carolina a leader
North Carolina has emerged as a leader in providing care for patients of HD, which affects control of movement, thought and behavior, and typically results in death 15 years to 25 years after onset of motor signs of the diseases.
HD Reach has worked to try to change the culture of living with HD. It is working in North Carolina to help educate patients and families about therapies that can help them live with the disease and cope with its psychological impact.
And in a state in which many people with HD do not live within driving distance of an HD center, HD Reach is working to connect patients with medical and health care professionals through a phone helpline. Future efforts will provide support through telepsychiatry that will allow patients to speak with a therapist or provider at home or during primary care visits.
“Now we have people in several smaller communities all throughout North Carolina who we can call upon if needed. If a patient or family member calls us, we know where to begin finding resources in that area,” Edmondson said.
Ultimately, she said, finding solutions to HD will take collaboration.
“It’s going to take all of us,” she said. “Now is the time for the broader Huntington’s community — the investigators and the clinicians and the patients — for all of us to come together because it does not appear to be far away, the treatments for this illness.”
The conference attracted representatives from over 85 universities, medical institutions, foundations and supporting organizations, including “some of the preeminent investigators in the world,” Edmondson said.
It included forums, some filled to capacity and standing-room-only, for patients, families, caregivers, researchers and medical professionals.
Shoulson said participants had an opportunity to examine clinical care and think about how to improve it, and to look at the research agenda for HD and how to pursue it.
And patients, families and research participants had a chance to learn together about HD and “how they can be part of the solution to develop a treatment to make a difference for this disorder,” he said.
The conference was designed to provide an opportunity to train and educate HD researchers; to provide outreach to HD clinicians and care providers; to focus on scientific research on HD; and to bring together HD patients and families.
“It was terrific,” Edmondson said. “Probably the very best event we’ve had in the state of North Carolina.”