Huntington disease (HD) is a degenerative brain disorder that is caused by a mutation in the HTT gene. When someone has HD, each of their children has a 50% chance to inherit HD. While there are currently no medications or treatments that can prevent or cure the disease, researchers around the world are working together to speed up progress through initiatives such as Enroll-HD.
Enroll-HD is a worldwide observational study for Huntington disease families that
monitors how HD appears and changes over time. North York General Hospital (NYGH) has been part of the study since 2014, which comprises 123 sites in 12 countries. One of the leading authorities on HD in Canada, NYGH's Genetics Department is one of the top worldwide enrollers for Enroll-HD in 2015.
“We've found that our patients and families are, in the most part, very receptive to being part of this study,” says Clare Gibbons, Genetics Counsellor. “It's important to remember that HD is an inherited disease so, while their participation may not produce immediate results, they could be helping future generations.”
As an observational study, Enroll-HD tracks the symptoms of the disease over the time. The study's three main goals are to better understand HD, to improve recruitment for clinical trials and to improve clinical care for HD patients by identifying best practices. Anyone who tests positive for HD can participate, as well as at-risk family members who have not been tested, those who have tested negative and non-related partners or unaffected parents (who act as family “controls” – patients who do not have the condition but who are otherwise similar and can act as a comparison). Participation includes regular mood, neurological and cognitive assessments.
“While it involves time and effort, it's extremely rewarding to be part of this global initiative,” Clare says. “What we all hope for is a cure for Huntington disease. Until then, we will do everything we can to help us get there.”
Huntington disease at a glance
Huntington disease (HD) is an inherited brain disorder that affects at least one in 10,000 Canadians, for which there is presently no cure. HD causes cells in parts of the brain to die: specifically the caudate, the putamen and, as the disease progresses, the cerebral cortex. As the brain cells die, a person with Huntington's becomes less able to control movements, recall events, make decisions and control emotions. The disease leads to incapacitation and, eventually, death (generally due to other health complications).
As the HD gene is dominant, each child of a parent with HD has a 50% chance of inheriting the disease and is said to be “at-risk.” The disease occurs in all races and males and females have the same risk of inheriting it.
Emotional turmoil (depression, apathy, irritability, anxiety, obsessive behaviour)
Cognitive loss (inability to focus, plan, recall or make decisions; impaired insight)
Physical deterioration (weight loss, involuntary movements (chorea), diminished coordination, difficulty walking, talking, swallowing)
- Source: Huntington Society of Canada