Today we heard updates from several hospitals that are working toward becoming Leukodystrophy Centers of Excellence in order to better care for these children and their complex needs, and we also heard research updates.
I'm going to jump right to the research updates because this was incredibly exciting.
First, we were told that Dr. Escolar has a paper that will be published the first week of September (a week AFTER the next NBS Advisory Panel meeting in PA) and this paper could very well get Krabbe onto the federal RUSP because it answers questions that previously weren't as clear. Why does the RUSP matter? Many states will only screen for diseases that are added to the Federal RUSP; once Krabbe is added, many states will automatically test for it!
As you probably remember, one of the things we (and many other families) have been told as we advocate is that they need published data. We've all been waiting and waiting for something to be published to help our case for adding Krabbe and this will apparently be it!
Second, and THE most exciting part: they are so close to a cure for Krabbe. The doctors didn't say it like that but it was apparent that is what they meant. Dr. Escolar and others have been treating twitcher mice with Krabbe successfully using the bone marrow transplant AND gene therapy together and the outcomes have been unbelievable!
This chart shows the life span of mice who were untreated, treated with bone marrow transplant only, and a combination of the two. The combination therapy is the top blue line. The mice who had the combination therapy in 2015 are STILL LIVING and show no signs of the disease!
The FDA has approved the idea but it won't go to clinical trial for 3-5 years unfortunately. In the meantime, our hearts are so hopeful because this is incredible news.
Thirdly, they discussed the improvement in the NBS test itself and the near-elimination of false positives using two factors and not just one (low GAL-C activity and high psychosine levels) and by using a computer algorithm to sort the data that has proven to accurately predict the form of the disease (early or late onset).
I tried to simplify all of this the best I could. To sum it up, research has made leaps and bounds in just the last two years and they are closer to a cure than ever before!
Dr. Kurtzberg from Duke also reported on the success they are seeing in stem-cell treatments of Cerebral Palsy and Autism. Stem cells from cord blood are incredible tools and doctors are doing amazing things with them.
Hunter's Hope does such an amazing job of not only funding research but also coordinating the dialogue and cooperation between scientists who are all working toward the same end. If you would like to support them, you can click here! Our goal is to raise $3,000 for them before Friday's walk!