Sharon Claridge
FAST is thrilled to report a very successful visit to the NIH which helped ensure another five years of funding for the Angelman Syndrome/Prader-Willi/Rett Syndrome Natural History Study! FAST, in a jointly arranged visit with Rett Syndrome International, met in May with the Directors of NICHD, including Dr. Duane Alexander and Dr. James Hanson, to discuss the critical need for the Natural History Study to continue even though funding had been cut for this program. In July, we were told that the two years of funding we had been cautioned to only hope for had been extended to the entire five years requested - a home run!

Our joint message of promising potential treatments currently under development that could be immediately trialed through the Natural History Study sites was well received. The NIH was pleased to hear from both an organizational and a parent perspective about the positive impacts that this NIH-funded study is having; we now are starting to acquire enough data to evaluate effects of various therapeutics, draw prospective conclusions on the genotype/phenotype relationships, and assist actual clinic al trials of promising therapeutics, such as levo-dopa. The related levo-dopa study was recently launched as a separate study using some of the same Natural History Study Sites to evaluate motor skill and cognitive improvements in Angelman Syndrome.

The NIH shared our excitement about the development of treatments through mechanisms and pathways that can be applied to two or more of these genetically similar conditions (AS/PWS/Rett) and potentially many other neurocognitive disorders. The NIH believes, and rightfully so, that it is getting the most for its' money by funding the joint Natural History Study at study sites across the US (Boston MA, Vanderbilt TN, Baylor TX, Greenwood SC, San Diego CA). As these sites are now well established, it becomes easier and cost-effective to start additional studies and trials using the personnel and infrastructure developed at these locations.

The NIH seemed to be most impressed with our consolidated advocacy approach in supporting the study. The NIH professionals are very dedicated and caring. One point that really hit home for me was when Dr. Hansen expressed that they "were here for us, no m ore importantly, here for your kids." In subsequent conversations with NIH representatives, we were told they received over 300 letters from the AS/PWS/Rett community in support of the continuing study and they expressed their appreciation to those who took the time to let them know how important this NIH-funded work is - so a big thank you to everyone out who voiced your support!

To learn more about the Rare Disease Clinical Research Network and/or to enroll in the Natural History Study, please click here