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

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.

Recruiting: Strengths and Difficulties of Children and Adolescents with FXS

Researchers at the University of Minnesota (UMN) and the University of Wisconsin (UW) are looking for parents/caregivers of a child/children with Fragile X syndrome (FXS) between the ages of 3-17 years to complete a short online survey. The teams are combining efforts to better understand the strengths and difficulties of children and adolescents with FXS.

on 29 January 2020, in Clinical Trials • Recruiting

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.

on 24 October 2019, in 2019 Grants • Clinical • Clinical Trials • Current Research Grants • McBride, Sean • Recruiting • Rowan University • University of Pennsylvania

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.

on 05 June 2019, in 2017 Grants • 2018 Grants • 2019 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Nelson, Charles A. • Recruiting • Research Updates • Wilkinson, Carol

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.

on 24 May 2019, in 2018 Grants • 2019 Grants • Clinical • Clinical Trials • Current Research Grants • Lepage, Jean-Francois • Recruiting • University of Sherbrooke, Canada

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.

on 09 May 2019, in Berry-Kravis, Elizabeth • Clinical Trials • Recruiting • Rush University Medical Center

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.

on 01 February 2018, in 2017 Grants • 2018 Grants • Biomarkers • Cincinnati Children's Hospital • Clinical • Clinical Trials • Current Research Grants • Erickson, Craig • Recruiting

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

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.

Pilot Clinical Trial of Lithium in Fragile X

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.

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.

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.)

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).

Encouraging Results from First Trial of Minocycline in Fragile X

With a $40,000 grant from FRAXA, Dr. Carlo Paribello and his team at the Surrey Place Centre Fragile X clinic in Toronto, Ontario, ran an open label trial to see if minocycline can improve learning and reduce anxiety and behavioral problems in people with Fragile X. Twenty participants between the ages of 13 and 35 years took minocycline for two months.

Clinical Trial of Aripiprazol in Fragile X Syndrome

With a FRAXA Research Foundation grant of $30,000 in 2006, Dr. Erickson conducted a pilot clinical trial of an available medicine, aripiprazole (brand-name Abilify). This was an open-label 12-week trial in 12 people ages 6–25 years with Fragile X. Results were promising, and published: 10 of the 12 participants showed behavioral improvements.

2015 – Neuren’s trofinetide showed some success in small Phase 2 clinical trials in Fragile X syndrome and in Rett Syndrome
a pilot lithium trial — Elizabeth Berry-Kravis, MD, PhD, and funded by FRAXA. Positive results published
pilot trial of CX516 — Elizabeth Berry-Kravis, and funded by FRAXA.
Phase III trials of arbaclofen – Seaside Therapeutics. Results were disappointing in Fragile X and autism.