Clinical Trials in Fragile X Syndrome

Clinical Trials in Fragile X Syndrome

To all who have loved ones impacted by Fragile X syndrome, we sincerely thank you for your interest in clinical trials. These trials are beacons of hope during challenging times, and your curiosity and engagement are instrumental in pushing this important research forward.

As a further resource, we offer an enlightening video discussion featuring Holly Roos and Katie Clapp, both mothers to young adults with Fragile X and key figures in FRAXA. Their personal experiences provide unique and heartfelt perspectives on the journey through Fragile X clinical trials.

We understand that you might have questions about what participating in a clinical trial entails. Each study is supervised by a medical professional specializing in Fragile X syndrome. Participation is free, with no need to inform your insurance provider and the freedom to withdraw at any time. Typically, travel expenses are covered.

It's important to know that the FDA mandates two successful large-scale clinical trials before considering the approval of a new treatment. Upon successful trials and subsequent FDA approval, new drugs become accessible to others diagnosed with Fragile X syndrome, hopefully improving the quality of life for many individuals and families.

Ongoing Fragile X Studies Accepting Participants

FRAXA Research Foundation Joins COMBINEDBrain Consortium for Fragile X Biomarker Research

May 3, 2023

Help accelerate research on Fragile X syndrome biomarkers by contributing samples to the COMBINEDBrain Consortium’s project. Contact Katie Clapp at FRAXA Research Foundation to learn how you can participate.

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Recruiting: Tetra Therapeutics Initiates Phase 2B/3 Clinical Studies in Fragile X Syndrome

February 16, 2023

Tetra Therapeutics has launched large scale clinical trials of their phosphodiesterase (PDE) inhibitor for males ages 12-45 with Fragile X syndrome. FRAXA Research Foundation’s basic and translational research pointed the way to phosphodiesterase inhibitors to treat Fragile X.

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Zynerba Is Now Recruiting for Phase 3 Clinical Trial (RECONNECT) Of Zygel

November 26, 2022

Zynerba has announced it is now recruiting subjects for a large-scale Phase 3 clinical trial (RECONNECT) of Zygel at sites across the United States, Australia, the UK and Ireland. They are recruiting children and adolescents with Fragile X syndrome for this randomized, double-blind, placebo-controlled, multinational study…

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

Recruiting: BRIDGE Study (BRain Indicators of Developmental Growth)

March 7, 2022

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

March 5, 2022

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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Additional Fragile X Clinical Trials

Please visit for a complete listing of Fragile X syndrome clinical trials.

Completed Fragile X Trials: A Journey Towards Progress

Banerjee team at College of Staten Island

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

February 17, 2022

With this $90,000 grant from 2017-2018, Dr. Banerjee’s team has shown that enhancing PKCε can correct brain development and abnormal behaviors in Fragile X knockout mice and had their findings published in PubMed.

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Auditory System Dysfunction and Drug Tolerance in the Fragile X Mouse

September 2, 2020

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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Stephanie Barnes, PhD

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

March 7, 2019

Dr. Stephanie Barnes has been investigating the role of NMDA receptors as a FRAXA Postdoctoral Fellow in Dr. Emily Osterweil’s laboratory at the University of Edinburgh from 2016-2018. With an additional year grant from FRAXA, she is now continuing her work to identify novel targets and test pharmacological therapies in the Fragile X mouse model at the Picower Institute at MIT with Dr. Mark Bear.

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Antonella Borreca, PhD, and Alberto Martire, PhD

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

December 11, 2018

Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

November 6, 2018

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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Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

November 2, 2018

This 2017-2018 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada for the first year. A previous FRAXA grant to the Sonenberg lab has led to great interest in the available drug, metformin, as a potential treatment for Fragile X syndrome. FRAXA is currently organizing clinical trials of metformin.

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Andreas Frick and Kamila Castro

Non-Invasive Imaging as a Biomarker for Fragile X Clinical Trials

September 6, 2018

FRAXA Research Foundation has renewed Kamila Castro’s 2017 FRAXA Fellowship for a second year. With this $90,000 award, Kamila Castro and Principal Investigator Dr. Andreas Frick are using non-invasive magnetic resonance imaging (MRI) methodology to assess connectivity changes in the brain in Fragile X. If this project is successful, we will have objective outcome measures to evaluate new treatments, both in mice bred to mimic Fragile X and in human patients.

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Craig Erickson, MD, Cincinnati Children's Hospital

Fragile X Clinical Trial of AZD7325 in Adults

February 1, 2018

With a $51,000 grant from FRAXA Research Foundation, Dr. Craig Erickson conducting a double-blind, placebo-controlled clinical trial of AZD7325 in adults ages 18-50 with Fragile X syndrome at Cincinnati Children’s Hospital.  The compound being studied is an investigational new drug from AstraZeneca that targets GABA (A) receptors.

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2017 Fragile X Research Grant: MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

September 30, 2017

Almost all brain research focuses on neurons – nerve cells. However, the brain has many more glial cells which support, nourish, and protect the neurons. FRAXA Research Foundation awarded a 2017 grant $90,000 to support Dr. Yang’s studies of how changes in glial cells contribute to Fragile X syndrome. This grant is funded by a grant from the Pierce Family Fragile X Foundation.

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Quantitative Assessment of the Serotonin System in a Mouse Model of Fragile X Syndrome

September 27, 2017

FRAXA Research Foundation awarded a grant of $90,000 over two years to Clinton Canal, PhD.  Dr. Canal, previously a research assistant professor at Northeastern University, has just launched his own lab at Mercer University in Atlanta, GA, to focus on Fragile X research.

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Peter Vanderklish

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

September 13, 2017

With a $35,000 grant from FRAXA Research Foundation in 2016, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.

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Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

September 8, 2017

With a $45,000 grant from FRAXA Research Foundation in 2009, Dr. Mark Bear and Dr. Asha Bhakar used High Content Screening (HCS) to develop an assay sensitive to the effect of the FXS genotype. This project was funded in full by NIH after the first year.

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Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

May 23, 2017

FRAXA Research Foundation awarded $122,000 over 2016-2018 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

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Samie Jaffrey, PhD, at Weill Medical College of Cornell University, FRAXA research grant

Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?

April 24, 2017

With a 2-year, $90,000 grant from FRAXA Research Foundation over 2016-17, Dr. Samie Jaffrey at Weill Medical College of Cornell University explored which FMRP isoform is the best target to treat Fragile X syndrome.

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Frank Kooy lab

A Kinase Assay as a Biomarker for Fragile X Syndrome

January 15, 2017

With a $90,000 grant from FRAXA Research Foundation over 2017-2018, Dr. Frank Kooy at the University of Antwerp, Belgium, is investigating whether phosphorylation abnormalities are a suitable biomarker for the Fragile X syndrome.

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FRAXA Research Team. From left to right: Sandrine Lefeuvre (PhD, Pharmacologist), Sylvain Briault (MD, PhD, head of the team), Julie Maublanc (PhD student, Pharmacologist), Olivier Perche (PhD, hospital engineer), Béatrice Laudier (MD, PhD student), Betty Hébert (PhD student), Arnaud Menuet (PhD, assistant professor) and Jacques Pichon (Professor, Dr es Science).

Sensory Hypersensibility in Fragile X Syndrome and BK Channel Openers

September 12, 2016

With $366,100 in grants from FRAXA Research Foundation, these investigators at the University of Orleans studied sensory abnormalities in Fragile X mice and test the ability of a class of drugs, BK channel openers, to rescue these abnormalities.

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MicroRNAs as Biomarkers in Fragile X Syndrome

September 10, 2016

With a $90,000 grant from FRAXA Research Foundation in 2015-2016, Dr. Mollie Meffert and Dr. Christina Timmerman at Johns Hopkins University studied groups of small RNAs, known as microRNAs, which are greatly decreased in brain tissue of Fragile X mice vs. normal controls.

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Altered Sleep in Fragile X Syndrome: Basis for a Potential Therapeutic Target

September 5, 2016

With a $90,000 grant from FRAXA Research Foundation over 2016-2018, Dr. Carolyn B. Smith and Dr. Rache Sare at the National Institute of Mental Health investigated the basis of sleep problems in Fragile X syndrome.

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Emily Osterweil

Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome

August 15, 2016

FRAXA Research Foundation funded a 2016-2017 Fellowship for Dr. Stephanie Barnes in the University of Edinburgh lab of Dr. Emily Osterweil. With this $90,000 award, the team is investigating NMDA signaling in fragile X syndrome mice.

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Peter Vanderklish, PhD, at Scripps Research Institute, FRAXA research grant

Targeting AMP-Activated Protein Kinase Pathway in Fragile X Syndrome

September 13, 2015

With a $100,000 grant from the FRAXA Research Foundation in 2015, Dr. Peter Vanderklish explored a novel strategy to treat Fragile X syndrome: AMPK activators. The good news is that there are FDA approved (for example, metformin) and naturally occurring AMPK activators (such as resveratrol, found in red wine).

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Global Leader in Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

Explore Current Research Grants
Help Fund the Cure

Global Leader in Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

Explore Current Research Grants
Help Fund the Cure