Clinical Trials in Fragile X Syndrome • Fragile X Research

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.

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

Open-label Trial of Metformin in Children and Adults with 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.

UMASS CANDI New Techniques to Measure FMR1 mRNA and FMRP

CANDI has set a date to wrap up this study by March 2019. Ideally they would like to enroll 5 more individuals with Fragile X syndrome between now and then but if they have at least three more folks who would like to participate, that would be terrific! The upper age limit has been increased from 12 to 22 and they are particularly interested in enrolling girls with Fragile X if possible.

on 04 January 2019, in Clinical Trials • Recruiting, by FRAXA Research Foundation

Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X

CONNECT-FX (Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X) is a newly initiated multi-national, randomized, double-blind, placebo-controlled, 14-week trial, sponsored by Zynerba Pharmaceuticals. It is now enrolling patients ages 3 through 17 years with full mutation Fragile X syndrome, to evaluate the efficacy and safety of an investigational CBD gel (ZYN002).

on 28 November 2018, in Clinical Trials • Recruiting, by FRAXA Research Foundation

Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

Elizabeth M. Berry-Kravis, MD, PhD has informed us that Rush University Medical Center in Chicago is enrolling the first patient in the NeuroNext learning trial for children ages 3-6 this week. This is the start of a large-scale Fragile X clinical trial of Novartis AFQ056 (an mGluR5 antagonist) with children.

on 30 October 2018, in Berry-Kravis, Elizabeth • Clinical • Recruiting • Rush University Medical Center, by FRAXA Research Foundation

Now Recruiting: 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.

on 05 October 2018, in 2018 Grants • Berry-Kravis, Elizabeth • Clinical • Clinical Trials • Current Research Grants • Recruiting • Rush University Medical Center, by FRAXA Research Foundation

Now Recruiting: Clinical Study of EEG for Young Boys at Boston Children’s Hospital

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at the Labs of Cognitive Neuroscience at Boston Children’s Hospital are recruiting young boys (2-7 years) with Fragile X syndrome (FXS) to participate in a study investigating how differences in brain activity affect learning, language, and behavior in FXS.

on 27 March 2018, in Clinical Trials • Recruiting • Research Updates, by FRAXA Research Foundation

Neural Markers of Cognitive, Language and Behavioral Deficits in Children with Fragile X

This 2017 grant of $90,000 over two years enabled Dr. Wilkinson to study EEG in young children with Fragile X syndrome at Boston's Children's Hospital. She is working with principal investigator, Dr. Charles Nelson, Professor of Pediatrics at Harvard Medical School and a specialist in cognitive neuroscience. Co-funded by the Autism Science Foundation and the Pierce Family Fragile X Foundation.

on 16 March 2018, in 2017 Grants • 2018 Grants • Biomarkers • Boston Children's Hospital • Clinical • Clinical Trials • Current Research Grants • Harvard University • Nelson, Charles A. • Recruiting • Wilkinson, Carol, by FRAXA Research Foundation

FX-LEARN – Clinical Trial for Language Learning of AFQ056 in Children

The purpose of this NeuroNEXT study is to find out if the drug AFQ056, made by the pharmaceutical company Novartis, is safe and has beneficial effects on language learning in children who have Fragile X syndrome (FXS). The study also aims to find out if a structured language intervention can help children with Fragile X syndrome communicate better.

on 01 February 2018, in Berry-Kravis, Elizabeth • Clinical Trials • Recruiting • Rush University Medical Center, by FRAXA Research Foundation

Fragile X Clinical Trial of AZD7325 in Adults

With a $51,000 grant from FRAXA Research Foundation, Dr. Craig Erickson will conduct a double-blind, placebo-controlled clinical trial of AZD7325 in adults 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, by FRAXA Research Foundation

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

Completed Trials

2016-18: Combining Lovastatin and Minocycline – Quebec, Canada – Positive results reported
2012-15: Epigallocatechin gallate (mega green tea extract) – Mara Dierssen – Barcelona, Spain Results reported
2016 – Double Blind Crossover Trial of Ganaxolone – Frank Kooy and Anke Van Dijck – Antwerp, Belgium, and Dr. Randi Hagerman – Davis, CA. Disappointing results reported
2015 – Neuren’s trofinetide showed some success in small Phase 2 clinical trials in Fragile X syndrome and in Rett Syndrome
2008: Minocycline trial – Carlo Paribello, MD – Toronto, Canada. Positive results published
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.