Science Update by Dr. Benke – July 2016


I had the pleasure participating in the 14th Rett Syndrome Symposium in Illinois end of June. The Symposium was sponsored by, united Rett and Rett-related disorders (CDKL5, FOXG1 and MeCP2 dup) with their support groups. Topics discussed included basic research (“how do things work?”), translational research (“knowing how things work, can we impact an animal model?”) as well as clinical research (“how does this work in humans?”).

Basic science research continued to probe MeCP2 and CDKL5 function. Advances using human stem cells to model Rett and CDKL5 highlighted translational science. There is exciting promise that protein replacement and other pharmaceutical strategies could help CDKL5. Clinical science was capped by the Neuren trial, now in phase 2 (safety first, efficacy second; 60 participants; we are a local site), with promise for a phase 3 trial (safety, efficacy; as many participants as possible). Clinical research excitement is noted with the presence of start-up companies and other promising trials.

Finally, Dr. Alan Percy mentioned the efforts of the ongoing NIH-funded (your tax dollars at work) Natural History Study of Rett and Rett-related disorders. We have just started enrolling and hope to ramp that up soon!

Overall, this was a highly encouraging symposium! We will tell you more about research in the pipeline at our 1st Rett Family Symposium on October 1st!