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

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

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra funded by FRAXA

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 April 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

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.
2016 – Double Blind Crossover Trial of Ganaxolone – Frank Kooy and Anke Van Dijck- Antwerp, Belgium, sponsored by FRAXA Research Foundation. Dr. Randi Hagerman conducted a part of this trial in Davis, CA, sponsored by Marinus Pharmaceuticals.
“Consistent with the mechanism of action and preclinical studies, anxious FXS patients treated with ganaxolone showed clinically relevant reductions in anxiety across several scales and subscales sensitive to measuring changes in anxious behavior. These results are encouraging and suggest that ganaxolone may improve anxiety in children with FXS, which could potentially allow them, as well as their families, to experience a more stabilized lifestyle.” – Frank Kooy, PhD.
2015 – Neuren’s trofinetide showed some success in small Phase 2 clinical trials in Fragile X syndrome and in Rett Syndrome
2012-13: Open-Label Pilot Trial of Lovastatin – Francois Corbin, MD, PhD — Sherbrooke, Canada
2008: Minocycline trial – Carlo Paribello, MD – Toronto, Canada. Positive results were published
a pilot lithium trial — Elizabeth Berry-Kravis, MD, PhD, and funded by FRAXA. Positive results were published
pilot trial of CX516 — Elizabeth Berry-Kravis, and funded by FRAXA.
Phase III trials of arbaclofen were completed by Seaside Therapeutics but results were disappointing in both Fragile X and autism. However, baclofen is an available drug.

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