July 7th, 2006

We had a great meeting in Dekalb. We were impressed and pleased with the turnout and think that those who were able to make it feel that it was worthwhile. We had great presentations by all of the physicians, some of which really highlighted how crucial and beneficial CDCA therapy is in regards to treatment of CTX. We also got some good news from James Bona, who is a Captain in the U.S. Public Health Service division of the Office of Orphan Drug Development at the Food and Drug Administration. We have a handful of options for resolving the impending issues with medication and with some help from James and his division, we think we are going to be ok in regards to maintaining the CDCA supply after December of 2007 which is when it’s predicted that the Falk foundation will cease production of Chenofalk.

Some key things we talked about during meeting besides the medication was building an international registry of CTX patients. This will help facilitate more communication between patients and doctors and can serve as a means for greater education among those physicians who are currently treating CTX patients so that they can see the variations that clearly are present in the symptoms amongst individuals who are treated for CTX.

While CTX does present with some common symptoms, it was made quite evident by the presentations that the onset and severity of those symptoms can vary greatly from person to person. With a common registry, more patients and their history’s can be made available for comparison and possibly lead to some pattern in the genotype/phenotype relationship amongst CTX patients. This could possibly lead to more and better CTX treatments as well as revealing unkown issues such as environmental triggers, etc. that may or may not influence the onset of CTX symptoms. This is another aspect of CTX that hasn’t been fully researched yet. Dr. Berginer’s presentation touched on this, which I found interesting as I have always been curious if research had been done in this area and the results of that research.

Another thing that we touched on was research that we feel needs to be done in the area of CTX. We think most patients and physicians will agree that CDCA is the definitive treatment for CTX and that research in this area of CDCA in treatment of CTX is not going to yield any significant value over what is currently known. While we didn’t necessarily come to a consensus about desired topics for research, Angie and I both feel strongly that an area that hasn’t been fully pursued, or has been but to a lesser degree is research around the formation and dissolution of the Xanthomas that appear in CTX patients.

Dr. Berginer did present some data indicating that some patients did not develop Xanthomas in addition to listing other symptoms that certain individuals did not present, however it seems evident that all patients have some risk of forming these painful growths. Realizing that Xanthoma formation can be very painful and contribute to limited, painful movement, we feel that this is an area that needs research to better understand, treat, and hopefully eliminate them.

I was also intrigued by a finding that Dr. Connor presented with a theory of Cholestanol formation and/or slow efflux of Cholestanol in the brain. I think that this theory warrants investigation. Without being a neurologist, I would venture to say that Cholestanol buildup in the brain is certainly not a good thing and that discoveries of this kind need serious consideration and investigation. We think this should be on the short list of research topics.

As we as a group continue post discussions about the meeting, we are confident that additional research topics will be raised and communicated back to the physicians and other individuals who can provide direction on the subject of research and how best to focus the resources that we as patients, and they as physicians have to realize and implement these research goals.

Lastly, we want to wholeheartedly thank all patients, their families, and the doctors who attended. Many came from far flung locations and sacrificed a great deal to attend. We also want to thank the ULF and all the volunteers who helped in all aspects from the meeting preparation to the social events that were part of the event. Without their support this meeting quite likely would not have happened on the scale that it did.

It was great to meet all of the families, patients, and doctors and to be able to discuss how we are going to proceed. We feel that this is a great start to some wonderful things from all perspectives of CTX care including diagnosis and treatment. We look forward to having some dedicated time for CTX next July during the annual ULF meeting and are excited to see the developments that will occur between now and then. We hope that everyone who attended felt this meeting was as productive as we did and left with a positive feeling about the future of CTX and the patients who are affected by it.

Posted in Updates.