Clinical trials and cyclic AMP in fragile X syndrome: A life journey

  • Autism Research
Speaker Elizabeth M. Berry-Kravis, M.D., Ph.D.
Rush University Medical Center
Date & Time



4:45 – 5:00 PM ET Waiting room opens

5:00 – 6:15 PM ET Talk + Q&A

Autism Research

Autism Research lectures bring together scientists and scholars to discuss diverse and important topics related to autism.

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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.

About the Lecture

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.


About the Speaker

Elizabeth Berry-Kravis established the Fragile X Clinic and Research Program at Rush University Medical Center in 1992, which now provides care to more than 700 individuals with FXS. She researches FXS and other neurogenetic conditions, including outcome measures, biomarkers, natural history studies and clinical trials in FXS, Phelan-McDermid syndrome, Niemann-Pick type C disease, Angelman syndrome, Rett syndrome, and Down syndrome. She has led the translational effort to develop new models for targeted treatment for FXS.

Past Lectures

Rare variants and the genetics of autism

Evan E. Eichler, Ph.D.Professor, Department of Genome Sciences and Howard Hughes Medical Institute, University of Washington, Seattle

Evan Eichler discussed his research on the genetics of autism and related neurodevelopmental conditions.

Phenotyping sleep

Emmanuel Mignot, M.D., Ph.D.Craig Reynolds Professor of Sleep Medicine, Stanford University

Emmanuel Mignot discussed sleep biology as well as sleep disorders and their impact. He presented a link to what is known on the genetics of sleep and sleep disorders. He emphasized the need for large scale objective sleep recording studies with genomic and proteomic analysis to better understand the molecular pathways regulating sleep and circadian biology.

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