Friday, March 16, 2007

NIH Conference Recap

I have now returned from the NIH sponsored Scientific Conference on MPS Diseases in Washington, DC. It was definitely worth the travel (9 + hrs. each way) and out-of-pocket expense.

I was a little intimidated as I attended the evening reception the night prior to the two day conference. The room was filled with highly educated researchers and doctors, and a handful of parents that I had never met. But by the time I left that evening, I had spoken at length with two of the leading MPS researchers in the world. These researchers are the equivalent to any celebrity in my mind…I’ve been reading about their work since the day Isaac was diagnosed. I had the opportunity to ask them about their research specific to MPS VI, and discuss our foundation and first grant. I was totally amazed. And the conference hadn’t even begun!

So the next two days were filled with presentations and discussions by the leading researchers and medical doctors from all over the world. Each of the researchers presented their current work, much of which hasn’t been published yet. Then the other scientists asked questions, provided suggestions and occasionally criticism. It was all very interesting, and very impressive. The amount of intelligence in that room was exhausting, and it took every ounce of concentration to try to follow along. (Notice I say try).

Some of the highlights included a presentation by Dr. Fran Platt, which partly focused on the secondary problem of inflammation with lysosomal storage diseases. She found that mice who were given NSAIDS (non steroidal anti inflammatory drugs) and Vitamins E and C (antioxidants) lived significantly longer than those with no treatment. This wasn’t specific to MPS VI, but there is growing evidence that an immune response contributes to some of the pathological problems with MPS diseases, and therefore this treatment should prove of benefit in combination with other therapies. Further studies are needed, but at least in the interim we look into geting Isaac on some NSAIDS and vitamins. You can read one of her papers on the subject here.

I also learned that Dr. Hopwood is beginning clinical trials in Australia injecting ERT into the hip joints of patients with MPS VI. The idea is that it should help get the enzyme into the bone and joint more effectively than intravenous ERT, which due to the limited blood supply to the bones doesn’t help much with bone problems. Dr. Hopwood also had a paper about to be published which analyzes the blood, urine and gene mutation of MPS VI patients, and predicts the clinical course of disease progression. This is the first of its kind, and I’m anxious to get my hands on it in the coming months. (We also expect to get the results of Isaac’s gene mutation analysis back from Australia in April.)

There were numerous presentations on gene therapy, mostly with animal models, using a variety of vectors and techniques. Some are further along than others, and it looks like there may be a clinical trial underway for MPS III as early as 2008 in Europe.

Overall, the conference was so encouraging. Not only did I get to meet all of these researchers and doctors face to face, hand out our Request for Applications for our first grant in person, and learn about the progress being made that will hopefully one day save our son – but it was also so promising to see these doctors collaborating, sharing information and advice, advancing the field of MPS diseases and treatments. It reaffirms my belief that one day we will have more options for treatment for Isaac, that he will be able to lead a much longer and better quality of life than most had initially thought possible.

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