The Huntington’s Disease Clinical Research Center (HDCRC) at UC San Diego Health System has been designated a Center of Excellence by the Huntington’s Disease Society of America (HDSA). UC San Diego was one of only 29 centers nationwide to receive this prestigious designation, which recognizes centers for their elite multidisciplinary approach to Huntington’s disease care and research.
“We are so honored to receive this re-designation, which marks our 13th consecutive year as an HDSA Center of Excellence,” said Jody Corey-Bloom, MD, PhD, center director and a professor emeritus in the UC San Diego School of Medicine Department of Neurosciences. “Our goal is to provide the best and most comprehensive care for patients and families with Huntington’s disease. This designation gives us confirmation that we’re doing the right things for our patients.”
The annual designation involves a rigorous application and site review process and includes $50,000 in grant funding. Competition for 2015 was intense, with 42 applications received from top-notch medical institutions around the country.
Louise Vetter, chief executive officer of the nonprofit HDSA, praised the “exceptional” efforts of the UC San Diego Health System program. “Because of the leadership of Dr. Corey-Bloom and the outstanding multidisciplinary care team that she and her group have woven together, families in the San Diego region who have Huntington’s disease have the best in care at a premier center that has the ability to impact research efforts to cure this devastating disease.”
UC San Diego’s center is staffed by a multidisciplinary team of expert neurologists, psychiatrists, therapists, counselors and other professionals who have deep experience working with families affected by Huntington’s disease. Services include testing for the Huntington’s gene mutation. “This is a neurodegenerative disease that doesn’t just affect the patient, it affects the whole family,” said Corey-Bloom, noting that Huntington’s is an inherited disorder that may affect more than one person in the same family. “You don’t just care for the patient, you care for the whole family because there are so many issues with this disease.”
The center also conducts an aggressive research program and is currently involved in three clinical trials investigating compounds for their ability to help disease sufferers. One of these trials is particularly noteworthy because it marks the first test of a potential disease-modifying therapy for Huntington’s disease. Existing therapies treat disease symptoms but do not slow or change disease progression, according to Corey-Bloom. In October 2014, the center enrolled the world’s first patient in the trial, which explores an investigational multiple sclerosis drug for its potential to improve Huntington’s disease.
“Our goal is to really reach for the stars in terms of finding a treatment or a cure,” said Corey-Bloom. “We want to find things that will be really helpful to the patients.”
In Huntington’s disease, a genetic mutation causes the progressive breakdown of nerve cells in the brain. This leads to deterioration of a person’s physical and mental abilities, eventually affecting sufferers’ ability to reason, walk and speak. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25 year period. Many describe the symptoms of Huntington’s disease as like having ALS, Parkinson’s and Alzheimer’s simultaneously. There is no cure.
“You are helping people through one of the darkest periods of their lives,” said Corey-Bloom. “We provide a wide range of services – medications to improve their symptoms, physical, speech and occupational therapies, counseling, a social worker to help them deal with issues such as job loss. We also have a dietitian, since many people with Huntington’s lose weight because of the increased movements caused by the disease.”
Along with expert care, one of the major things the center offers is hope, said Corey-Bloom, who conducts research along with treating patients. She is currently conducting a joint study with Elizabeth Thomas, PhD, a scientist from The Scripps Research Institute, on patient saliva, which has been found to contain the Huntington’s disease protein. The pair are investigating whether protein levels can reveal new information about the disease.
That’s important not only for today’s patients, but also for future patients, said Corey-Bloom, many of whom may be family members of current sufferers. According to the HDSA, Huntington’s disease is known as the quintessential family disease because every child of a parent with Huntington’s has a 50/50 chance of carrying the faulty gene. Today, there are 30,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.
“Today, we’re seeing the kids of the previous generation of parents who were our patients,” said Corey-Bloom. “There is a level of trust. They know us, they know we took really good care of their loved one before and that we’re passionate about helping people with this disease.”
Pictured: Shown are MRI scans of a Huntington’s disease (HD) sufferer’s brain (left) and a normal brain (right). In the HD brain, many brain cells have died and fluid (black areas) has filled in those areas. In the normal brain, those same areas are occupied by brain cells. Credit: UC San Diego School of Medicine