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


Location

Webinar

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.

Inquiries: lectures@simonsfoundation.org

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

What do we mean by ‘autism risk genes’?

David Ledbetter, Ph.D.
Chief Clinical Officer, Dascena

Joseph Buxbaum, Ph.D.
Director, Seaver Autism Center
Professor, Psychiatry, Neuroscience, Genetics and Genomic Sciences
Vice Chair for Research and Vice Chair for Mentoring, Psychiatry, Icahn School of Medicine at Mount Sinai

Heather Mefford, M.D., Ph.D.
Full Member, St. Jude Children’s Research Hospital

David Ledbetter and Joseph Buxbaum discussed whether there are genes for which mutations confer risk specific to autism or whether these genes are really conferring general risk of disrupted brain development. The discussion was moderated by Heather Mefford.

Small molecules, genes and antisense oligonucleotides: Industry perspectives on treatment development for ASD

Federico Bolognani, M.D., Ph.D.
Vice President, Head of Clinical Science, Axial Therapeutics

Stuart Cobb, Ph.D.
Chief Scientific Officer, Neurogene; Research Fellow, University of Edinburgh

Yael Weiss, M.D., Ph.D.
Vice President, Business Development, Ultragenyx

Randy Carpenter, M.D.
Chief Medical Officer, Rett Syndrome Research Trust; Co-Founder, Allos Pharma

Federico Bolognani, Stuart Cobb, and Yael Weiss joined a panel to discuss new industry developments on the use of small molecules, gene therapy and antisense oligonucleotides as treatment approaches for autism spectrum disorders (ASD). The panel discussion was moderated by Randall Carpenter.

New research results from the Australian Autism Biobank study

Jake Gratten, Ph.D.Group Leader, Mater Research Institute, The University of Queensland
Adjunct Senior Research Fellow, Institute for Molecular Bioscience
Naomi Wray, Ph.D.National Health and Medical Research Council Leadership Fellow – Group Leader, Institute for Molecular Bioscience
Affiliate Professor, Queensland Brain Institute, The University of Queensland

Jake Gratten and Naomi Wray presented findings from the Australian Autism Biobank study, an initiative to establish an Australian resource of biospecimens, phenotypes and genomic data for autism research.

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