Autism Research lectures bring together scientists and scholars to discuss diverse and important topics related to autism.
On February 24, 2021, Elizabeth Berry-Kravis discussed refinements in clinical trial design and outcome measures that contributed to the success of a recent phase II trial for fragile X syndrome.
Her talk was part of the Simons Foundation Autism Research lecture series.
Fragile X syndrome (FXS) was thought to be a model neurodevelopmental condition for the translation of mechanism-targeted treatments from basic neuroscience and animal models to affected individuals. Thus far, however, clinical trials of these approaches have failed. More recent refinements of trial designs and outcome measures have led to a successful phase II trial that targets changes in cyclic AMP (cAMP) regulation in FXS.
In this lecture, Elizabeth Berry-Kravis focused on early findings of a cAMP production deficit in cells from FXS, FMR1 gene discovery, understanding of FMRP function and identification of downstream neural changes. Learnings from resultant targeted treatment trials of disease-directed agents in FXS, which did not meet with success, and outcome measure refinement have been applied to more recent trial designs. The application of such advances has produced a successful outcome in the first trial targeting the cAMP deficit in FXS.