Link Between Lipid Profile, eCBome System and Gut Microbiota in Fragile X Syndrome

Link Between Lipid Profile, eCBome System and Gut Microbiota in Fragile X Syndrome

Why does obesity challenge so many people with Fragile X? Dr. Caku’s team thinks changes in the gut are the culprit. This team has found that Fragile X syndrome causes changes in the tiny organisms that live in our gut. They believe that these abnormalities cause changes in the brain which impair learning and behavior.

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Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Mode

Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Mode

With this grant, the team will identify the pathways responsible for this excessive activation and attempt to reverse the excess. If they can correct this using drugs, they will be able to identify a new potential treatment for Fragile X solving one more piece of the Fragile X brain puzzle.

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The Role of Astrocyte BMP Signaling in Fragile X Syndrome

The Role of Astrocyte BMP Signaling in Fragile X Syndrome

Astrocytes are star-shaped cells that make up one fifth of all cells in the human brain. Recently researchers found a specific pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug. With this grant, the team will try to correct the pathway in Fragile X mice. The hope is that they will find a new potential treatment approach for Fragile X syndrome.

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Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome

Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome

Did you know that depression is more common in those with autism and/or Fragile X? Even more disturbing is the discovery that current treatments for depression do not work in Fragile X mice. With this grant, the team will work to develop a rapid screening tool to identify FDA-approved drugs which can treat depression in people with Fragile X syndrome.

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Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles

Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles

Why is it so hard to find the right medications to help people with Fragile X? Just as Fragile X affects individuals differently, medications do as well. This project aims to bring personalized medicine to Fragile X syndrome.

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Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA

Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA

We have long suspected that the clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance, losing effect over time. With a $90,000 grant from FRAXA, Dr. Patrick McCamphill, a Postdoctoral Fellow in the MIT lab of Dr. Mark Bear, is investigating. He does indeed find tolerance, and now he is looking for ways to overcome it.

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FRAXA Drug Validation Initiative (FRAXA-DVI)

FRAXA Drug Validation Initiative (FRAXA-DVI)

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential Fragile X treatments. FRAXA-DVI uses in-vitro systems, behavior batteries, and gene expression and peripheral biomarker platforms to validate investigational new drugs and repurposed available compounds in Fragile X syndrome (FXS).

FRAXA-DVI laboratoryRead more

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

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

In November 2020, a phase II clinical trial reported extremely successful results. 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. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.

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Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

FRAXA Research Foundation has awarded a $90,000 research grant to Stanford University principal investigators Dr. Philippe Jacques Mourrain and Dr. Gordon Wang, along with postdoctoral fellow, Dr. Rochelle Coulson. They are evaluating additive effects of combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome.

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Clinical Study of Non-Invasive EEG for Children Ages 2-7

Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of brain differences using non-invasive EEG.

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Parkinson’s Therapy May Hold Promise for Fragile X

Parkinson’s Therapy May Hold Promise for Fragile X

A study funded by FRAXA in Italy has encouraging results for people with Fragile X: drugs that block adenosine receptors (A2A) reversed signs of Fragile X in a mouse model.

“One of the most intriguing things about this study is that it points to an entire drug class (not just the one drug used) as potentially therapeutic for Fragile X. Many available compounds block A2A receptors, and we know they are safe and effective.

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Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

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

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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Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.

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Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor from Tetra Therapeutics

Positive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor from Tetra Therapeutics

Today, Tetra Therapeutics announces the first unequivocally positive phase 2 clinical trial in Fragile X syndrome, press release below. The results do not depend on carving out a subset of patients or post hoc analysis.

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Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse

Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse

FRAXA Research Foundation has awarded $90,000 over 2019-2021 to principal investigator Dr. Jay Gibson and postdoctoral fellow Dr. Andrew Holley at the University of Texas Southwestern Medical Center. They are investigating circuit mechanisms for auditory system dysfunction and drug tolerance in the Fragile X mouse model.

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Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

In this Fragile X research webinar we hear from Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside as they present about Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse.

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Scientists Find a New Way to Reverse Symptoms of Fragile X

Scientists Find a New Way to Reverse Symptoms of Fragile X

FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.

Bear lab (Bear 3rd from left, McCamphill on right)Read more

Cholesterol-Dependent Changes in Fragile X Astrocytes

Cholesterol-Dependent Changes in Fragile X Astrocytes

FRAXA Research Foundation has awarded $45,000 to Dr. Maija Castrén, of the University of Helsinki, Finland. Dr. Castren is working with Dr. Iryna Ethell, at the University of California at Riverside, to uncover mechanisms behind beneficial effects of lovastatin and cholesterol-dependent changes seen in the Fragile X brain.

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