Research Updates Archives • Fragile X Research

Making Drug Development Efficient Through Community-Based Collaboration

FRAXA Research Foundation FRAXA Updates • Research Updates October 4, 2021October 14, 2021FRAXA-DVI

FRAXA co-founders Katie Clapp and Mike Tranfaglia, spoke virtually at the 5th Pharma Pricing Reimbursement and Market Access 2021 conference.

In this session, facilitated by Nadia Bodkin, PharmD, MS, from the Rare Advocacy Movement, Katie and Mike were joined by Christopher U. Missling, PhD, President and CEO of Anavex Life Sciences Corp. to discuss the collaboration between FRAXA and Anavex as a case study example to help raise awareness amongst others in the rare disease industry of these types of collaborations between advocacy and industry.

2021 Fragile X Research Grants Funded by FRAXA Research Foundation

FRAXA Research Foundation FRAXA Updates • Research Updates October 1, 2021October 12, 2021astrocytes, autism, CBD, CRISPR, drug repurposing, EEG, FDA, lovastatin, metformin, mRNAs, organoid

Each year, FRAXA funds a diverse portfolio of research. Our FRAXA Fellowships are seed funding for the future, the feedstock for the Fragile X treatment development pathway. While we are looking to promote as many promising new approaches as possible, prominent themes emerge each year, as scientists around the world tackle previously neglected areas.

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

FRAXA Research Foundation Recruiting • Research Updates • Trials and Studies September 14, 2021October 13, 2021CBD, 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.

20 Years of Advancing Fragile X Research: Progress Toward a Cure

FRAXA Research Foundation Bear, Mark • FRAXA Updates • Research Updates September 13, 2021September 29, 2021arbaclofen, baclofen, mGluR5

Dr. Mark Bear joined the Fragile X field in 1999 when he received a research grant from FRAXA Research Foundation. At the time, we recognized the symptoms of Fragile X, and we knew its cause: a single missing protein. But we knew very little else. Dr. Bear traces the discoveries that now give us great optimism of finding effective treatments and ultimately a cure for Fragile X.

Brain Organoids, Moving Fragile X Research Forward

Holly Roos FRAXA Updates • Jin, Peng • Kang, Yunhee • Research Updates • Wen, Zhexing September 9, 2021September 9, 2021Alzheimer's, mRNAs, organoid

There are many ways research produces discoveries, and all of them include a process of steps that build on each other. When an exciting new avenue appeared with potential for Fragile X syndrome, FRAXA stepped up to fund it. We now see the results of this grant and are excited to share them with you. The importance of different types of models have been shared and discussed over many years. We are now adding a “brain organoid” model to this group, and the potential behind it is really exciting.

Tetra’s Fragile X Clinical Trial – The Most Successful So Far

FRAXA Research Foundation Berry-Kravis, Elizabeth • Cogram, Patricia • FRAXA Updates • Research Updates September 7, 2021September 29, 2021BPN14770, cyclic AMP, drug tolerance, FRAXA-DVI, NIH, PDE4, Tetra Therapeutics

Dr. Mark Gurney, CEO of Tetra Therapeutics, discusses how one of the earliest clues to the biology of Fragile X led to the most successful Fragile X clinical trial to date. FRAXA and Tetra began working together after a key FRAXA-funded study caught the attention of Dr. Gurney. Through the FRAXA Drug Validation Initiative, Dr. Patricia Cogram was able to conduct preclinical validation experiments with Tetra’s lead compound in record time, paving the way for clinical trials.

Promising Results of Preclinical Study of ANAVEX®2-73

Holly Roos Research Updates August 26, 2021August 26, 2021Alzheimer's, autism, BDNF, cancer, FRAXA-DVI, Rett syndrome, seizure

We are excited to share that Anavex Life Sciences announced today that preclinical data of the ANAVEX®2-73 (blarcamesine) study in Fragile X syndrome were published in the peer-reviewed journal, Scientific Reports.

Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA

FRAXA Research Foundation Bear, Mark • Massachusetts Institute of Technology (MIT) • McCamphill, Patrick • Research Updates May 21, 2021September 27, 2021AFQ056, drug tolerance, GSK3, lithium, mGluR5, Novartis, Roche

We have long suspected that the clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance, losing effect over time. With a $90,000 grant from FRAXA, Dr. Patrick McCamphill, a Postdoctoral Fellow in the MIT lab of Dr. Mark Bear, is investigating. He does indeed find tolerance, and now he is looking for ways to overcome it.

Tetra Releases Full Results of FRAXA-Funded Clinical Trial of PDE4D Inhibitor

Jennifer Frobish FRAXA Updates • Research Updates April 29, 2021May 3, 2021drug tolerance, FRAXA-DVI, PDE4, Tetra Therapeutics

Today, Tetra Therapeutics published the full results of its PDE4D trial published the full results to their announcement. Now having reviewed the full results, FRAXA can confidently say that the PDE4D drug trial gives hope to patients and families that Fragile X Syndrome is a treatable disorder, and this particular drug can improve intellectual disability.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • 2020 Grants • 2021 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, 2021March 10, 2021autism, EEG, 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.

Parkinson’s Therapy May Hold Promise for Fragile X

Fragile X News Today Borreca, Antonella • Martire, Alberto • Research Updates February 24, 2021AFQ056, drug tolerance, glutamate, mGluR5, Novartis

A study funded by FRAXA in Italy has encouraging results for people with Fragile X: drugs that block adenosine receptors (A2A) reversed signs of Fragile X in a mouse model.

“One of the most intriguing things about this study is that it points to an entire drug class (not just the one drug used) as potentially therapeutic for Fragile X. Many available compounds block A2A receptors, and we know they are safe and effective.

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

University of Rochester Medical Center Kurosaki, Tatsuaki • Maquat, Lynne • Research Grant Results • Research Updates • University of Rochester February 3, 2021February 17, 2021cancer, drug repurposing, mRNAs, NIH, Roche

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach

FRAXA Research Foundation Binder, Devin • Erickson, Craig • Huber, Kimberly • Pedapati, Ernest • Research Updates • Seminar Series December 23, 2020March 10, 2021astrocytes, EEG, glutamate, NIH, seizure

Presentations by:
Craig Erickson – Translational medicine and mechanistic studies of brain neurophysiology in Fragile X Syndrome: A NIH Center Overview
Ernest Pedapati – Network Mechanisms, Biomarkers, and Pharmacology of Fragile X Syndrome in Humans
Devin Binder – Network Mechanisms of Neurophysiology and Behavior in mouse models of Fragile X Syndrome
Kimberly Huber – FMRP Regulation of local and long-range neocortical circuits in the mouse: Links with EEG phenotypes

Developing Arbaclofen for Fragile X – Dr. Mark Bear 1:1 with FRAXA

FRAXA Research Foundation 1:1 with FRAXA • Bear, Mark • Research Updates December 9, 2020May 21, 2021arbaclofen, baclofen

Seven years ago, arbaclofen (STX209) was pulled from development, disappointing families around the US. Now MIT professor and FRAXA Investigator Dr. Mark Bear has founded Allos Pharma to bring it back. Dr. Bear sat down with FRAXA co-founder Katie Clapp to share the story and next steps.

Arbaclofen Returns After 7 Years!

FRAXA Research Foundation Bear, Mark • FRAXA Updates • Research Updates November 19, 2020December 9, 2020arbaclofen, autism, baclofen, GABA, hyperexcitability, prepulse inhibition

Allos Pharma Inc, a late-stage pharmaceutical company developing therapeutics for neurodevelopmental disorders, has announced the exclusive license rights on IP and documentation for arbaclofen in fragile X syndrome (FXS).

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 • Press Release • Research Updates November 2, 2020December 21, 2020Alzheimer'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.

Overcoming the Placebo Effect in Fragile X Clinical Trials

Caitlyn Dent, RN, BSN Research Updates October 28, 2020October 28, 2020EEG, fNIRS, MRI, sleep

In a placebo-controlled clinical trial, some participants are given an experimental medication, while others are given a placebo. Participants do not know whether they are taking medicine or placebo. In theory, this can allow researchers to rule out the placebo effect by comparing outcomes among the two groups. But, per Wexler (2020) “having a strong placebo effect can obscure any real effect of the therapy being investigated”.

Zygel May Improve Behavior in Children With Severe Fragile X, Trial Data Suggest

Fragile X News Today Research Updates October 22, 2020October 22, 2020CBD, FDA, Zygel

Zynerba presented clinical trial results for Zygel at a recent neurology conference. Zygel, an experimental cannabidiol (CBD) gel, may reduce behavioral abnormalities in children with Fragile X syndrome who have more severe disease.

Healx Drug Repurposing Programme for Fragile X Syndrome

FRAXA Research Foundation Research Updates • Seminar Series October 1, 2020October 1, 2020autism, drug repurposing, EEG, Healx, PAK (p21-activated kinase), Roche

David Brown, MD, PhD, Ivan Angulo-Herrera, PhD and Anthony Hall of Healx present about the Drug Repurposing Programme for Fragile X syndrome.

Yale Researcher Dr. Elizabeth Jonas 1:1 with FRAXA

FRAXA Research Foundation 1:1 with FRAXA • Jonas, Elizabeth • Research Updates September 18, 2020September 18, 2020

We talk with Dr. Elizabeth Jonas, Professor of Internal Medicine and Neurology at Yale School of Medicine, about her new research suggesting that leaky mitochondria cause some symptoms of Fragile X syndrome. Leaky membranes may also be involved in Parkinson’s Disease and other diseases.

Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse

FRAXA Research Foundation Binder, Devin • Razak, Khaleel • Research Updates • Seminar Series August 27, 2020August 27, 2020astrocytes, DoD, drug repurposing, EEG, glutamate, Healx, hypersensitivity, matrix metalloproteinase, NIH, seizure, sound

In this Fragile X research webinar we hear from Devin K. Binder, MD, PhD, Professor, University of California at Riverside Medical School and Khaleel Razak, PhD, Professor, University of California at Riverside as they present about Mechanisms and Biomarkers of Sensory Hypersensitivity in the fmr1 Knockout Mouse.

Aripiprazole (Abilify) in the Treatment of People with Fragile X: An Anecdotal Account

Caitlyn Dent, RN, BSN Research Updates July 29, 2020August 5, 2020Abilify, aripiprazole, autism, dopamine, drug repurposing, FDA, hypersensitivity, NIH, prepulse inhibition, serotonin, sleep

The aim of this article is to discuss the use of Abilify (generic name: aripiprazole) as a treatment for people with Fragile X syndrome (FXS). As an “off-label” prescription, Abilify targets behaviors such as irritability, aggression, self-injury and severe tantrums.

Trofinetide Clinical Trial Results Published

FRAXA Research Foundation Research Updates May 29, 2020FRAXA-DVI, Neuren Pharmaceuticals, Rett syndrome, trofinetide

New Zealand-Based Biotech Neuren Pharmaceuticals Has Published Successful Phase 2 Fragile X Clinical Trial. Trofinetide, given to adolescent and adult males with Fragile X syndrome, was shown to be generally safe and was well-tolerated. It also showed preliminary evidence of efficacy. This trial validated a new design which can be used in future trials.

Scientists Find a New Way to Reverse Symptoms of Fragile X

FRAXA Research Foundation Bear, Mark • McCamphill, Patrick • Research Updates • Senter, Rebecca May 20, 2020August 5, 2021Alzheimer's, autism, cancer, glutamate, GSK3, hyperexcitability, hypersensitivity, lithium, mGluR, mGluR5, NIH, prepulse inhibition, seizure

FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.

Bear lab (Bear 3rd from left, McCamphill on right)

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

FRAXA Research Foundation Research Updates • University of Wisconsin • Westmark, Cara March 12, 2020March 12, 2020Alzheimer's, EEG, metformin, NIH, Roche, seizure, sleep, sound

The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.

Fragile X Researcher, Cara Westmark, PhD

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