New Clinical Research Project

New Clinical Research Project Developing a way to measure some of the early symptoms of Huntington’s disease – symptoms that are barely visible to the outside world – is the focus of a revolutionary new project, and we need your help to make this research a success.The Ontario Cancer Biomarker Network (OCBN), located in the MaRS centre in the heart of Toronto’s biomedical research community, will be working with volunteers to develop “measuring sticks” to be used to create new and much more precise rating scales for people who have inherited the gene but do not have overt symptoms of Huntington’s disease. This project is funded by Cure Huntington’s Disease Initiative (CHDI) and is being conducted in partnership with the Huntington Society of Canada (HSC). An important part of this landmark project will get underway in early January.People from Toronto and the surrounding area are needed to volunteer for the Functional Rating Scale Taskforce for pre-Huntington’s Disease, or FuRST-pHD project. HSC’s Toronto chapter will host an information session on Jan. 6, 2009 in North York with neurologist Dr. Mark Guttman, a member of the FuRST-pHD core group, who will share news on this and other projects impacting the Huntington’s community.OCBN will develop the new rating scales, said Dr. Guttman, with the purpose of creating something that can measure pre-HD symptoms objectively. The scales will be an invaluable tool in drug development since they will allow researchers to measure a drug’s effectiveness on a functional level, whether the response is an improved thinking process, less irritability and depression, or fewer outbursts. Organizations like the FDA and Health Canada don’t want to see results of blood tests; they want concrete evidence that a trial drug has a meaningful outcome for the patient, Dr. Guttman explained. That’s why a rating scale that shows very precise and specific changes in areas like behaviour or cognition in response to a certain drug will be instrumental in the clinical trials process.The objective is to bring drugs to market that will slow or stop the progression of HD, working towards the “holy grail” – a drug that will prevent the development of any HD symptoms. HD is a tri-symptomatic disease, affecting movement, behaviour and cognition. The disease is often not diagnosed until the motor manifestations start to occur, but studies are showing that by the time chorea is evident, other manifestations of the disease are already well underway. The early, subtle signs will become the focus of the rating scales, which can be used to measure changes related to HD at a much earlier stage.The functional rating scales are expected to become very important pieces of the drug trial process. They’ll provide a way to measure responses to certain drugs, determining whether symptoms are improving or worsening. Because cognitive deterioration may occur long before physical symptoms show up, it’s important to find drugs that will delay the symptoms, pushing back changes in the brain as early as possible.Volunteers are needed for two components of the project. Focus groups will be formed to obtain information about early symptoms and the impact on people’s lives. There will be three separate groups of 10 individuals – one group will have tested positively for the HD gene but are pre-symptomatic, the second group will be in the early stages of HD and the third group will be comprised of caregivers. Part of the process will require caregivers to describe some of the small, hard-to-detect symptoms that they see in the person with HD. It could be something as simple as a ringing phone causing panic in the person with HD, indicating a disconnect between the phone ringing and what the automatic response would normally be. This behaviour would be representative of cognitive deterioration. Someone who is suddenly unable to get on a bus would be showing another measurable form of deterioration. The focus group will help to set the direction of the project.Volunteers who have positive DNA tests and are not yet diagnosed with HD are also needed to pilot test the functional rating scales developed as part of the FuRST-pHD project. Participants will be asked to visit Dr. Guttman’s office in Markham to have the ratings scales administered to them. The FuRST-pHD team will have rapid feedback on the validity of the scales and further refine the “measuring sticks” as part of a reiterative process. Dr. Guttman said that it would be wonderful if there could be a pool of 100 or more participants for these preliminary testing procedures. Those participants may be called upon a few times throughout the year as the rating scales are developed. “This is the groundbreaking part of developing a cure for HD,” Dr. Guttman said. “It’s a Canadian thing. OCBN is (in Canada), HSC is supporting it; in my group, we’re trying to be one of the main players in this. Hopefully there’s some Canadian pride that we can share. We can do this in the U.S. or Australia, but it makes sense to do it in Toronto.”The information evening is open to anyone impacted by HD, even those who may not qualify for the FuRST-pHD project. Dr. Guttman will be talking about several other research projects that are also in need of volunteers, including a large international study funded by the National Institutes of Health called PREDICT HD. Participants who have had DNA testing should be willing to undergo annual testing, including cognitive and physical assessments, an MRI and questionnaires over the next five years. The January information session will also feature updates on clinical trials by the Huntington Study Group, including new medications to treat moderate symptomatic HD that would help balance and movement. The Cooperative Huntington’s Observational Research Trial (COHORT) is another project that is still recruiting volunteers who have developed HD, have inherited the HD gene or may be at risk because a family member is affected by the disease.CHDI is currently spending $100 million annually in HD research, Dr. Guttman said. “It would be absolutely spectacular to have drugs to slow or stop Huntington’s disease.” Huntington’s research is moving along at a faster pace than ever before, and projects like FuRST-pHD could have a major impact on those who have inherited the HD gene but are pre-symptomatic. CHDI expects to have drugs in the next one to two years ready for the testing stage, Dr. Guttman said, and that’s why it’s so important to have volunteers willing to get involved. Today’s participants will have a major impact on the future of HD.“This is an extraordinarily important project for the whole Huntington’s community,” Jo Anne explained. “It is going to set definitions for early diagnosis which will help find appropriate medications, treatments, and therapies sooner.”The development of a functional rating scale is only the beginning. Anyone interested in taking part, whether now or in the future, can be added to a list of potential participants.

To learn more about the Jan. 6 information session or the FuRST-pHD project,

contact the HSC Toronto chapter at info@hdtoronto.org or in Greater Toronto Area,

call Tim at (647) 238-6294.

Or call the HSC National Office toll-free at 1-800-998-7398.