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: BRIDGE Study (BRain Indicators of Developmental Growth)

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.

on 07 March 2022, in Recruiting • Wilkinson, Carol

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 participate in a study of brain differences using non-invasive EEG.

Purposeful and FRAXA Partnership Leads to Clinical Trial

Can a combination of drugs make a meaningful difference for people with Fragile X? A new clinical trial is going to find out. 15-20 adult men with Fragile X will be included in this upcoming trial, which will test the effects of an available drug and a nutritional supplement taken together.

on 19 October 2021, in 2021 Grants • Berry-Kravis, Elizabeth • Current Research Grants • Drug Repurposing • Recruiting • Rush University Medical Center • Seminar Series • Trials and Studies

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

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

on 14 September 2021, in Recruiting • Research Updates • Trials and Studies

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.

on 13 February 2020, in 2019 Grants • 2020 Grants • 2021 Grants • Cincinnati Children's Hospital • Clinical • Current Research Grants • Erickson, Craig • Recruiting • Smith Elizabeth • Trials and Studies

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

Completed Trials

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

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.

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.

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.

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.)

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.

Trials Awaiting Results

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.

Fragile X Studies Currently Accepting Participants

Recruiting: BRIDGE Study (BRain Indicators of Developmental Growth)

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

Purposeful and FRAXA Partnership Leads to Clinical Trial

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

fNIRS to Measure Treatment Response in Young Children with Fragile X

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

Completed Trials

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

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

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

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

Neuren’s Tofinetide Successful in Phase 2 Clinical Trial in Fragile X

Trials Awaiting Results

Fragile X Clinical Trial of AZD7325 in Adults

Global Leader in Fragile X Research

Global Leader in Fragile X Research