Clinical Trials in Fragile X Syndrome

To those of you who have family members with Fragile X, thank you for being interested in clinical trials! This is a challenging phase for all of us, and as exciting as it is, we know many of you have questions about what it means to be in a clinical trial.

Each study is supervised by a doctor that specializes in Fragile X. These trials are free, you do not have to tell your insurance company, and you can leave any time you want. Travel costs are usually covered. If you’d like to learn more, read this interview with a parent about her experience.

The FDA requires two successful large-scale clinical trials before it will consider approving a new treatment. If studies are successful and the FDA approves new drugs, others with Fragile X can also have access to these medicines.

Fragile X Studies Currently Accepting Participants

Recruiting: Facematch Fragile X Project at University of Newcastle

The FaceMatch project is using computer face-matching technology to help find a diagnosis for children with intellectual disability (ID) where genetic testing has not provided an answer. As we know, the time prior to diagnosis is one of the toughest periods in the journey of our children and we hope that the inclusion of families such as yours with a known diagnosis may help those families who are still searching for a diagnosis.
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Recruiting: Behavior and Cognition in Fragile X Adults Research Study at Stanford University

Researchers at Stanford University are conducting a clinical research study to learn about behavior & cognition in adults with intellectual & developmental disabilities. Information learned from this research can ultimately contribute to the development of treatment and intervention.
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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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Recruiting: Metformin Clinical Trial for Ages 16-50 with Fragile X Syndrome

FRAXA Research Foundation is funding a clinical trial of metformin for teens and adults with Fragile X syndrome. The trial is being conducted by Dr. Sean McBride at Rowan University in collaboration with colleagues at the University of Pennsylvania. Men and women ages 16-50 with Fragile X syndrome are invited to participate.
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Recruiting: 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 join a study of brain differences using non-invasive EEG.
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Recruiting: Clinical Trial of Metformin for Fragile X Syndrome

Metformin is commonly prescribed to control high blood sugar in type 2 diabetes. With a $50,000 grant from FRAXA Research Foundation, Dr. Artuela Çaku and Dr. Francois LePage are conducting an open-label clinical trial of metformin for children and adults with Fragile X syndrome, at the University of Sherbrooke in Canada.
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FX-Learn Clinical Trial is Enrolling Children with Fragile X

The NeuroNext learning trial for children with Fragile X syndrome ages 3-6 is open for enrollment. This clinical trial of Novartis AFQ056 (an mGluR5 antagonist) is recruiting at 13 clinical sites across the U.S.
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Fragile X Clinical Trial of AZD7325 in Adults

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

Completed Trials

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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Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

With a $66,714 grant from the FRAXA Research Foundation awarded over 2015-2017, Dr. Francois Corbin at the Universite of Sherbrooke will test the safety and synergistic effects of lovastatin and minocycline in patients with Fragile X syndrome.
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Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation funded during 2014-2015, Dr. Frank Kooy and colleagues at the University of Antwerp are conducting a double blind crossover trial of ganaxolone in patients with Fragile X syndrome. Results of this study were mixed (see Marinus: Results from Phase 2 Exploratory Clinical Study Support Continued Development of Ganaxolone in Fragile X Syndrome.)
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Neuren’s Tofinetide Successful in Phase 2 Clinical Trial in Fragile X

We are pleased to share great news adapted from Neuren’s press release: Neuren’s phase 2 trial has successfully established proof of concept and provides a strong rationale for Neuren to move forward with developing trofinetide for Fragile X syndrome. In this initial small trial with a relatively short treatment period, trofinetide was very well tolerated, with the high dose (70 mg/kg twice daily) demonstrating a consistent pattern of clinical improvement, observed in both clinician and caregiver assessments.
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Phase 1 Clinical Trial of Mega Green Tea Extract in Fragile X Syndrome

With a $124,000 grant from the FRAXA Research Foundation from 2012-2014, Dr. Mara Dierssen and Dr. Rafael de la Torre conducted preclinical studies in Fragile X knockout mice and a clinical trial in Fragile X patients using Mega Green Tea Extract, which contains 45% by weight epigallocatechin gallate (EGCG).
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Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

With a $65,000 grant from FRAXA Research Foundation in 2005, Dr. Berry-Kravis at the Rush University Medical Center conducted a pilot clinical trial of lithium in 15 patients with Fragile X syndrome. Results published.
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Trials Awaiting Results

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

FRAXA Research Foundation has funded a clinical trial of an investigational new drug, led by Dr. Elizabeth Berry-Kravis at the Rush Fragile X Clinic in Chicago. This trial will treat 30 adult males with Fragile X syndrome with a PDE4D allosteric inhibitor from Tetra Discovery Partners using in a crossover design, so that everyone gets active drug for part of the time and placebo for part of the time.
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Ray Turner, PhD and Xiaoqin Zhan, PhD

Explore Current Fragile X Research

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

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