Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

Over the past decade, a series of clinical trials of treatments for Fragile X syndrome reported disappointing results. However, in November 2020, a phase II clinical trial succeeded in improving a wide range of outcome measures. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation.

Based on these results, the planning process has begun for a large phase III trial of this investigational new drug for patients with Fragile X.

In the Simons Foundation lecture below, Elizabeth Berry-Kravis traces a 30-year story, from identifying the gene and protein underlying Fragile X, through finding dozens of treatment targets, to clinical trials of drugs directed at these targets. She shares what we’ve learned along the way to improve trial designs and outcome measures and, finally, how we’ve arrived at this promising step along the path to a cure for Fragile X.

FRAXA Research Foundation funded Dr. Berry-Kravis’s first clinical trials in Fragile X, of AMPAkines and of lithium, and other studies along the way. She is also a member of FRAXA’s Scientific Advisory Board.