Trials and Studies Archives • Fragile X Research

Recruiting: BRIDGE Study (BRain Indicators of Developmental Growth)

FRAXA Research Foundation Recruiting • Wilkinson, Carol March 7, 2022March 8, 2022autism, EEG, sound

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.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • 2020 Grants • 2021 Grants • 2022 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Has Results • Nelson, Charles A. • Recruiting • Research Updates • Trials and Studies • Wilkinson, Carol March 5, 2022April 11, 2022autism, EEG, NIH, Pierce Family Fragile X Foundation, sound

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.

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

FRAXA Research Foundation 2012 Grants • 2015 Grants • 2016 Grants • 2017 Grants • Biomarkers • Clinical • Corbin, Francois • Has Results • Lepage, Jean-Francois • Research Grant Results • Trials and Studies • University of Sherbrooke, Canada February 3, 2022April 18, 2022Fragile X Meeting, lovastatin, minocycline, MRI, Roche

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.

FX-Learn Clinical Trial for Children with Fragile X

FRAXA Research Foundation Berry-Kravis, Elizabeth • Rush University Medical Center • Trials and Studies November 9, 2021November 18, 2021AFQ056, mGluR5, NIH, Novartis

Thirteen centers across the US enrolled children with Fragile X in a large-scale clinical trial of Novartis AFQ056. Dr. Elizabeth Berry-Kravis and colleagues aim to show that this targeted treatment — an mGluR5 blocker for Fragile X which failed in previous adult human trials — can be better evaluated by studying effects on learning in young children.

Purposeful and FRAXA Partnership Leads to Clinical Trial

FRAXA Research Foundation 2021 Grants • Berry-Kravis, Elizabeth • Current Research Grants • Drug Repurposing • Recruiting • Rush University Medical Center • Seminar Series • Trials and Studies October 19, 2021April 15, 2022drug repurposing, FRAXA-DVI, serotonin, sound

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.

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

FRAXA Research Foundation Recruiting • Research Updates • Trials and Studies September 14, 2021April 6, 2022CBD, endocannabinoid, 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.

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

FRAXA Research Foundation Berry-Kravis, Elizabeth • Gurney Mark • Has Results • Research Updates November 2, 2020November 22, 2021Alzheimer's, autism, BPN14770, drug tolerance, FDA, mGluR5, NIH, PDE4, 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.

fNIRS to Measure Treatment Response in Young Children with Fragile X

FRAXA Research Foundation 2019 Grants • 2020 Grants • 2021 Grants • Cincinnati Children's Hospital • Clinical • Current Research Grants • Erickson, Craig • Recruiting • Smith Elizabeth • Trials and Studies February 13, 2020November 30, 2021AFQ056, EEG, fNIRS, mGluR5, MRI, NIH, Novartis, sleep

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.

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Berry-Kravis, Elizabeth • Clinical • Has Results • Research Grant Results • Rush University Medical Center • Trials and Studies September 15, 2019May 3, 2021Alzheimer's, BPN14770, cyclic AMP, FDA, FRAXA-DVI, NIH, PDE4, Pierce Family Fragile X Foundation, sound, Tetra Therapeutics

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 Metformin for Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Clinical • Lepage, Jean-Francois • Research Grant Results • Trials and Studies • University of Sherbrooke, Canada May 24, 2019January 13, 2022EEG, ERK, GABA, matrix metalloproteinase, metformin, MMP9, NIH

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.

Aripiprazole as a Treatment for Fragile X Syndrome

Hannah Maria Miles Erickson, Craig • Research Grant Results • Research Updates • Trials and Studies June 28, 2018June 29, 2018Abilify, aripiprazole, autism, NIH

Many medications are used to help people with Fragile X cope. But few clinical trials have been done on these drugs. Years ago FRAXA funded Dr. Craig Erickson to run a trial of aripiprazole (aka Abilify). FRAXA guest writer Hannah Miles recently caught up with Dr. Erickson to learn the results of the trial.

Fragile X Clinical Trial of AZD7325 in Adults

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • 2020 Grants • 2021 Grants • Biomarkers • Cincinnati Children's Hospital • Clinical • Completed Research Grants • Erickson, Craig • Pending Results • Trials and Studies February 1, 2018January 13, 2022AstraZeneca, AZD7325, GABA, glutamate, NIH

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.

Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

FRAXA Research Foundation 2014 Grants • 2015 Grants • Clinical • Dijck, Anke Van • Has Results • Kooy, Frank • Research Grant Results • Treatment Targets • Trials and Studies • University of Antwerp, Belgium September 2, 2017March 9, 2020drug tolerance, GABA, GABA-A, ganaxolone, glutamate, mGluR, seizure, sleep

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.)

New Fragile X Clinical Trial for Children Launching in June 2017

Theodore Coutilish Berry-Kravis, Elizabeth • Research Updates • Rush University Medical Center • Trials and Studies October 31, 2016February 25, 2019AFQ056, mGluR5, NIH, Novartis

Rush University Medical Center Professor Elizabeth M. Berry-Kravis, MD, PhD, has launched and is recruiting participants for a large-scale clinical trial to study effects of AFQ056, an mGluR5 blocker, on learning in young children.

Double Down: Fragile X Clinical Trial Combines Two Available Drugs

Theodore Coutilish Clinical • Corbin, Francois • Research Updates • Trials and Studies • University of Sherbrooke, Canada May 16, 2016December 26, 2019autism, lovastatin, minocycline, MRI, Roche

If all the science world’s a stage, Fragile X researchers are more than merely players. They are center stage. So believes Francois Corbin, MD, PhD, professor, Université de Sherbrooke, Canada, who directs the university’s Fragile X Clinic. Corbin, who has received more than $100,000 in FRAXA support since 2012, is leading a pilot randomized Phase II trial, exploring the tolerability and the synergistic effect of a combined therapy.

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

FRAXA Research Foundation Has Results • Research Updates • Trials and Studies December 7, 2015April 28, 2020drug tolerance, FDA, Neuren Pharmaceuticals, NIH, Rett syndrome, trofinetide

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.

Neuren’s NNZ-2566 Shows Clinical Benefit in Rett Syndrome Trial

Michael Tranfaglia, MD Research Updates • Trials and Studies November 26, 2014December 26, 2019Neuren Pharmaceuticals, Rett syndrome, trofinetide

This isn’t a Fragile X trial, but the Neuren compound, NNZ-2566, that is in trials now for Fragile X has shown significant positive effects in a Phase 2 trial for Rett syndrome. The results of the trial are interesting, in that improvement was seen a Rett syndrome-specific rating scale compared to placebo, and there was also improvement noted on the CGI-I (Clinical Global Impression of Improvement) and Caregiver Top 3 Concerns. However, there was no effect seen on ABC scores (Aberrant Behavior Checklist) compared to placebo. Many in the Fragile X field have noted the inadequacies of the ABC; indeed, it was never designed or intended to be an outcome measure for clinical trials.

Phase 1 Clinical Trial of Mega Green Tea Extract in Fragile X Syndrome

FRAXA Research Foundation 2012 Grants • 2013 Grants • 2014 Grants • Biomarkers • Centre for Genomic Regulation • Clinical • de la Torre, Rafael • Dierssen, Mara • Has Results • Research Grant Results • Trials and Studies September 13, 2014March 9, 2020estrogen, mTOR

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).

Roche reports clinical trial negative results

Michael Tranfaglia, MD Research Updates • Trials and Studies September 10, 2014July 23, 2018Roche

Roche has shared the sad news that their clinical trials in Fragile X have been unsuccessful. They will host a Webcast on Thursday, September 18, from 12:30pm - 1:30pm (EDT) to explain the results. For details and dial-in information please see this letter from Luca Santarelli, the Head of Neuroscience, Ophthalmology and Rare Diseases at Roche Pharma Research and Early Development on Roche`s Research Program on Fragile X. After the webcast, FRAXA will post a Q&A about what we've learned, other clinical trials in progress, and other promising treatment strategies.Read more

Why Did Fragile X Clinical Trials of mGluR Antagonists Fail?

Michael Tranfaglia, MD Research Updates • Trials and Studies August 15, 2014November 19, 2019AFQ056, arbaclofen, baclofen, drug combinations, drug tolerance, lithium, mGluR, mGluR5, minocycline, NIH, Novartis

by Michael Tranfaglia, MD. In my opinion, the Fragile X clinical trials of AFQ056 sponsored by Novartis failed because of a dose range that was inadequate for Fragile X, and because of the unexpected development of tolerance.

Fragile X Clinical Trial: Novartis Trial Results Are In, and They’re Not Pretty

Michael Tranfaglia, MD Research Updates • Trials and Studies June 26, 2014December 26, 2019AFQ056, drug tolerance, Fragile X Meeting, mGluR5, minocycline, Novartis, Roche

This year’s Gordon Conference just finished, and Novartis presented their results for the first time (though advisors and advocates had been given a private peak months ago.) To say that the trial results for AFQ056 were disappointing would be the understatement of the century!

Clinical Trials FAQ ← Frequently Asked Questions

FRAXA Research Foundation Research Updates • Trials and Studies January 11, 2013December 13, 2019AFQ056, arbaclofen, basimglurant, FDA, minocycline, Novartis, Roche

Question: How Do Families Decide Which Trial is Best for Them? Answer: Each of the trials has different requirements for joining, so many – if not most – people will only be eligible for one trial after screening. The best way to approach this is to call the clinic contact closest to your area and discuss this with him/her. Age, weight, current medications, behavior, and IQ are all factors.

Pilot Clinical Trial of Lithium in Fragile X Shows Promising Results

FRAXA Research Foundation 2001-2005 Grants • Berry-Kravis, Elizabeth • Clinical • Has Results • Research Grant Results • Rush University Medical Center • Trials and Studies November 14, 2010May 20, 2020lithium, minocycline, NIH, PAK (p21-activated kinase)

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.

Encouraging Results from First Trial of Minocycline in Fragile X

FRAXA Research Foundation 2006-2010 Grants • Clinical • Has Results • Paribello Carlo • Research Grant Results • Surrey Place Centre Toronto • Trials and Studies October 10, 2010April 27, 2020Fragile X Research Foundation of Canada, matrix metalloproteinase, mGluR5, minocycline, MMP9, Tetra Therapeutics

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

FRAXA Research Foundation 2006-2010 Grants • Clinical • Erickson, Craig • Has Results • McDougle, Christopher • Research Grant Results • Trials and Studies • University of Indiana September 1, 2007March 9, 2020Abilify, aripiprazole, NIH

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.

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