Huntington Study Group’s Huntington’s Disease Clinical Research Symposium 2012

Below are several keynote summaries and their findings:

Ashwini Rao (Columbia University) on the Role of occupational and physical therapy in improving function in Huntington’s disease^

Dr. Ashwini Rao of Columbia University began his presentation by outlining the definition of occupational therapy and physical therapy. Occupational therapists are professionals who aim to improve the health of clients in their daily activities through engagement in their occupation. Health care professionals who aim to promote movement, pain reduction, and health in their clients, on the other hand, conduct physical therapy.  After overviewing the development of clinical guidelines for the therapies, Dr. Rao explained that there is an underutilization of physical therapy at all stages of Huntington’s disease (HD), particularly in the early stages.

There are several problem clusters that arise in HD patients: balance and gait, posture and balance, and hand control. The following cluster symptoms were determined from a study conducted by Dr. Rao’s lab that examined gait and balance performance. In the pre-manifest stage of HD, symptoms may be observable as slower speed, shorter stride, more variable steps, and diminished hand function. In the manifest stage, symptoms are apparent as decreased speed, shorter and more variable steps, decreased step frequency, variable timing, and difficulty with eating, writing, and household or work-related tasks. For more information on the study, please click here.

In addition to identifying problem clusters, Dr. Rao also introduced an intervention framework. He recommended that patients diagnosed with HD engage in fall prevention exercises, gait and balance training, and appropriate regular physical exercise, regardless of their stage of symptoms. Dr. Rao noted that a study published by the New England Journal of Medicine showed that 48 regular sessions of tai chi, as well as tango lessons, improved postural balance in patients with Parkinson’s disease. (For more information on this study, click here) This exercise regimen may translate to HD patients as well, with a larger number of sessions being more effective.

Dr. Rao recommended that all HD patients begin an interdisciplinary model of care, with therapy tailored to their specific stage of the disease. Dr. Rao believes that those who have been recently diagnosed and are in early stages should seek out a therapist as soon as possible. In his opinion, developing a relationship with this therapist would allow an early assessment of motor markers and the creation of an exercise program that includes strength, balance, and cardiovascular capacity components. It is extremely important to make exercising habitual, as well as involve family and close ones in a daily regimen.

As patients progress into middle disease stages, they should continue with their exercise programs, as well as transition to therapeutic exercises in order to discover markers that might indicate risks. A home assessment should be conducted to determine the need for shower chairs, safety bars, scatter rugs, and any other items that might make the home friendlier and safer. Patients should also consider assistive devices such as a walker. Dr. Rao stated, “similar to cars, four wheel drive is the best” as it improves speed, stride length, and reduces variability in motion. Footwear should contain a supportive light cushioned sole, as well as flexible upper foot and heel support.

In terms of postural control during eating, patients should consider a sturdy chair with a high back. They should also throw out all the traditional mealtime rules such as having one’s elbows on the table (a necessary strategy). It is important to remove distractions during mealtime as well.

As for financial concerns, Dr. Rao mentioned a New York Times article on the topic of a recent settlement clarifying Medicare will pay for services needed to maintain a patient’s current condition in order to prevent or slow deterioration. This includes the necessary therapies outlined in Dr. Rao’s talk.

To learn more about Dr. Rao’s research, click here.

Dr. Steve Hersch (Mass General Hospital) on the Secondary Prevention of Huntington’s disease ^

Dr. Steve Hersch of Massachusetts General Hospital described the necessity of devising clinical trial designs that include at-risk individuals that do not want to undergo genetic testing. By allowing at-risk individuals to participate without learning their CAG count, researchers can enable greater participation while preventing coercion of unwanted genetic testing. Candidates would be anonymously tested for pre-manifest HD via cognitive and blood markers, as well as neuroimaging. (For more information on neuroimaging, click here.)

Dr. Hersch then transitioned into describing the research his lab has been conducting on the safety, tolerability, and potential efficacy signals for high-dose creatine to treat HD. (For more on creatine, click here). Creatine increases brain energy and has shown to be safe and tolerable. Creatine additionally slows brain atrophy and is actually modifying the effects of HD in patients that are pre-symptomatic. However, it is not yet clear if it can delay the onset of symptoms.

In addition, Dr. Hersch stressed that the creatine used in these studies is medical grade and not the creatine often found in health stores. One should not test high doses of creatine unless done so under medical supervision. As for clinical trials, Phase III of the CREST-E study will be a more rigorous study of the efficacy of creatine. Recruitment for the trial is ongoing. (For more on the CREST-E study, click here)

Dr. Blair Leavitt (University of British Columbia) on the Changing demographics at its prevalence on HD^

Dr. Blair Leavitt of the Centre for Molecular Medicine and Therapeutics (University of British Columbia) began his presentation by describing the prevalence of HD: 5 in 100,000 globally have the disease. In British Columbia, the location of his research, HD affects at least 1 in 1000. However, there has recently been a rise in the prevalence of the disease. Dr. Leavitt mentioned that new mutations have been occurring in families where HD had previously been absent.

As life expectancy increases in the United States, Dr. Leavitt believes that HD will soon become a disease of older people as life expectancy increases, similar to how Alzheimer’s is known today. Currently, many people might have HD, but will not live long enough to express symptoms. However, as technology and medicine improves, more individuals are expected to live long enough to the point where they are symptomatic.

Lavonne Goodman M.D. on Clinical Trials: Why Isn’t Everyone Doing It?

Dr. Lavonne Goodman, HD patient advocate, cited informal surveys conducted recently aimed at understanding why more people aren’t participating in clinical trials (For more on clinical trials, click here). Their findings suggested that a lack of awareness has prevented many people from participating. Often, there is a desire to participate, but many of those affected by HD are not aware of when or where trials are happening, and why these clinical trials are being conducted. Participation rates in clinical trials increased locally when trial advocates visited HD support groups and informed the group of local trials. In addition, advocates provided information packets about these trials, and addressed members’ questions and concerns. Many of the members of these support groups asked the following questions:  What studies and trials are currently ongoing? What is available in my geographic area? Are any open for enrollment? Why are these studies being done? What is the enrollment process?

Many other barriers must be overcome to increase HD clinical trial participation. These barriers include a fear of drug risks and side effects and stress. The stress of dealing with HD is often hard enough; adding a clinical trial to one’s to-do list can seem too overwhelming. The logistics are also difficult, as one must consider time lost at work, travel expenses, and potential loss of income. And again, lack of knowledge can be a deterrent as people might not want to participate if they think they are getting the placebo, or have to stop taking drugs that currently work for them. In addition, people are afraid that confidentiality will be breached and discrimination will ensue from medical providers or insurance.

Currently, hdtrials.org and clinicaltrials.gov are two resources where individuals can learn about trials occurring in their areas. However, these two websites are not always up-to-date. The Huntington’s Disease Society of America is working on improving information about clinical trials on their website in the next few months.

KP 12/17/2012