By Lynn Miller, Ph.D.

Conference Photos

I've been attending the annual HDSA convention since the 1998 convention in Denver and this one was my favorite. The hotel was lovely and the staff was helpful and courteous. The restaurant was expensive but boxed lunches were available to save time and money and Sunday breakfast was provided.

More important, I felt that we HD families were finally making progress in being heard. Two presentations were particularly exciting to me. The first was a panel presentation by several members of the Promoting Excellence in End of Life Care in Huntington's Disease Workgroup. Although the funding and focus was on the end of life, the report apparently touched on issues that affect the care of people with HD throughout the course of the disease.

An abstract of the report was distributed. The conclusion was that "…substantial gaps exist in addressing end-of-life and palliative care in persons with HD. Persons with HD have essentially fallen through the cracks of an existing healthcare system in the United States." I am hoping that the final report will have some specific advocacy ideas that we can work on. I suggested to a committee member that we need to have the Social Security disability regulations changed so that HD has its own criteria since right now the criteria for organic brain disease are being substituted inappropriately.

The other workshop was presented by Dr. Jane Paulsen. The topic was the controversy about when HD begins. Doctors and researchers are finally listening to HD families when we tell them that cognitive and psychological symptoms start long before the classical neurological symptoms used to diagnose onset. Many doctors seem to have the idea that the diagnosis of HD (not just HD itself) is such a terrible thing that it should be postponed until clear, incontrovertible neurological signs are present. But many people with HD and their families argue that the diagnosis is a positive step in avoiding denial, recognizing the source of puzzling changes and problems, and getting help.

It was also very exciting to see so many young people attending, having fun and serving as HD warriors with their fund raising and mutual support.

There was nothing especially exciting presented at the convention in the research line, just the steady progress we're all aware of. Clearly the researchers were all pleased with the progress made in gene silencing. I remember that this was considered 'science fiction' at the first convention I attended in 1998. Now everyone thinks it's do-able. And it would be the equivalent of a cure. Some of the researchers seemed to think it will take another ten years to have a cure or equivalent treatment (whether it's this or something else) but they also are looking for any effective therapy that would delay onset and slow progress so we can buy time in the meantime!

The researchers are thinking about the right treatment at the appropriate stage now. This is important, I think, because we already have some evidence that some potential treatments are only helpful at a particular stage (The old Vitamin E study showed that it was effective at reducing chorea only in the early stage group, for example).

This issue came up in the context that the current thinking about targeting the aggregates is going to be stage dependent. We are getting closer to having treatments to target aggregates but before that happens, there needs to be a better understanding of them. Inhibiting them from forming in people with early stage HD might be a good thing because it might address the toxicity of the mutant protein. However, dissolving aggregates after the disease has progressed might make things worse since the cell might then be overwhelmed with the mutant protein.

There will be another, larger clinical trial of LAX 101. That study has been reported on by Amarin but hasn't been published in a refereed academic journal yet. The good results in the area of movement were statistically significant only when the group that stayed with the study was considered. Generally though, researchers include the drop outs too in the results and when they were included, the results didn't reach statistical significance.

A big problem in HD research is that moderate effects just don't show up as statistically significant with studies of 100 - 300 people. And yet, we need these therapies. For example, the CoQ10 results in people were comparable to the mice results but not statistically significant. If we assume though, that the effect was real, we're talking about delaying onset or slowing progress for maybe a year.

New studies of CoQ10 use with other diseases suggest that maybe the CoQ10 doses should have been higher. Chris Ross of Johns Hopkins will be doing a safety and tolerability study to see if it can be given safely at higher doses to HD patients, and if so, there will be a larger study involving many more research subjects than last time.

There will be a definite clinical trial for tetrabenazine in the US. This medication is only available on an experimental basis here but is used widely to treat the symptom of chorea in the UK. I think it's about time it was tested more vigorously so we have more information about side effects and so it can be FDA approved if the results warrant it.

Despite the lack of an exciting announcement, I continue to feel encouraged by the researchers. You can clearly see progress from year to year and the research varies from basic research to assays to find drugs to test to clinical trials.

- published 6-21-2003

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