Validating Novel Inhibitors of ERK Signalling to Treat Fragile X Syndrome

One promising treatment approach for Fragile X syndrome is to inhibit on a neuronal pathway, ERK. ERK inhibitors are also being studied as treatments for other disorders including autism.
This team has conducted pilot studies showing that ERK inhibitors are very effective in reversing signs of disease in Fragile X mice. With this grant from FRAXA they will take the next steps toward possible clinical trials of an ERK inhibitor for individuals who have Fragile X syndrome.

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Recruiting: BRIDGE Study (BRain Indicators of Developmental Growth)

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

This study from the Wilkinson Lab at Boston Children’s Hospital is investigating how differences in brain activity affect learning, language and behavior in children with Fragile X syndrome, Down syndrome, and Autism Spectrum Disorder. One of the goals is to find brain markers that predict cognitive, language, and behavioral difficulties in these groups. Another goal is to better understand the differences in brain activity between young children with and without Fragile X and Down Syndrome, and whether these differences are similar in children with Autism Spectrum Disorder.

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Cannabinoids as a Treatment for Fragile X Syndrome

Many people with Fragile X syndrome are hyper-sensitive to sights and sounds, and Electroencephalography (EEG) studies show that there are abnormalities in brain circuits. EEG studies show similar changes in Fragile X mice. So the team will use EEG tests in mice to find which drugs best reduce hypersensitivity. They can then easily move on to human EEG-based clinical trials. What they learn will tell us much more about why people with Fragile X are hypersensitive – and which drugs could best help them.

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Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

Presentations by:
Craig Erickson – Translational medicine and mechanistic studies of brain neurophysiology in Fragile X Syndrome: A NIH Center Overview
Ernest Pedapati – Network Mechanisms, Biomarkers, and Pharmacology of Fragile X Syndrome in Humans
Devin Binder – Network Mechanisms of Neurophysiology and Behavior in mouse models of Fragile X Syndrome
Kimberly Huber – FMRP Regulation of local and long-range neocortical circuits in the mouse: Links with EEG phenotypes

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Overcoming the Placebo Effect in Fragile X Clinical Trials

In a placebo-controlled clinical trial, some participants are given an experimental medication, while others are given a placebo. Participants do not know whether they are taking medicine or placebo. In theory, this can allow researchers to rule out the placebo effect by comparing outcomes among the two groups. But, per Wexler (2020) “having a strong placebo effect can obscure any real effect of the therapy being investigated”.

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Ketogenic Diet Eases Symptoms in Fragile X Male Mice

Fragile X Researcher, Cara Westmark, PhD

The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.

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fNIRS to Measure Treatment Response in Young Children with Fragile X

FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.

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Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.

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Should You Participate in a Fragile X Clinical Trial?

A Fragile X clinical trial of a new PDE4D allosteric inhibitor from Tetra Therapeutics is nearly complete. Right now there are 3 remaining spots open to males 18-45 years of age with Fragile X syndrome. Dr. Elizabeth Berry-Kravis at the Rush University Medical Center in Chicago is leading this trial. The drug being studied has a unique mechanism of action that might improve cognitive and memory function.  

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.

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