Cell Reports has published the results of the study “Correction of Amygdalar Dysfunction in Rat Model of Fragile X Syndrome” by FRAXA Investigator Dr. Sumatra Chattarji and his team at the National Centre for Biological Sciences in Bangalore, India. The researchers investigated the synaptic basis of deficient conditioned fear and its reversal in Fragile X syndrome rats.
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Making Drug Development Efficient Through Community-Based Collaboration
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.
Read more2021 Fragile X Research Grants Funded by FRAXA Research Foundation
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.
Read more20 Years of Advancing Fragile X Research: Progress Toward a Cure
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.
Read moreBrain Organoids, Moving Fragile X Research Forward
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.
Read moreTetra’s Fragile X Clinical Trial – The Most Successful So Far
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.
Read morePromising Results of Preclinical Study of ANAVEX®2-73
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.
Read moreSynaptogenix Announced Intention to Launch a Fragile X Clinical Trial with Bryostatin
One of the most exciting kinds of work that FRAXA does is following the journey of an experimental new treatment until it is ready for trials in people with Fragile X. From an initial idea, through the development process, to clinical trials, FRAXA helps out all along the way. From an initial idea, through the development process, to clinical trials, FRAXA helps out all along the way. The recent announcement by Synaptogenix is a great example of how FRAXA funding and use of FRAXA-DVI can accelerate research on Fragile X.
Read moreFragile X Syndrome: In Pursuit of a Cure Webinar
A global webinar titled “Fragile X Syndrome: In Pursuit of a Cure,” took place on July 22, 2021 to commemorate World Fragile X Day. This complimentary event is co-organized with WuXi AppTec. We are delighted that more than 5,000 registered from more than 50 countries worldwide, coming together to raise awareness of Fragile X, and to foster collaborations towards effective treatments and ultimately a cure.
Read moreDrug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA
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.
Read morePivotal Phase 3 Trial of Zygel in Severe Fragile X Possible This Year
Zynerba Pharmaceuticals reported receiving advice from the U.S. Food and Drug Administration (FDA) on the design of an upcoming Phase 3 clinical trial meant to confirm previous trial findings supporting Zygel as a cannabidiol treatment in a specific subset of Fragile X syndrome patients. The new trial, called RECONNECT, is expected to launch before October, and will mainly enroll children and adolescents with a complete (100%) methylation of FMR1, the gene mutated in Fragile X.
Read moreTetra Releases Full Results of FRAXA-Funded Clinical Trial of PDE4D Inhibitor
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.
Read moreParkinson’s Therapy May Hold Promise for Fragile X
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.
Read moreThe Why and How of FRAXA’s Work to Find a Cure for Fragile X
Thank you Talk Fragile X for having FRAXA’s cofounder Katie Clapp as a guest on your podcast! It was a pleasure to share why FRAXA got started and our motivation for finding effective treatments and ultimately a cure for Fragile X syndrome.
Read moreBeneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells
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.
Read moreFragile X Research Funding of $1 Million Offered for 2021
FRAXA plans to fund $1 million for a generous number of Fragile X research grants and fellowships in 2021. Our mission is to find specific treatments and ultimately a cure for Fragile X syndrome. We aim to bring practical treatment into current medical practice as quickly as possible; we prioritize projects that have a clear practical application and the results of which will be shared in a timely fashion.
Read moreIntegrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach
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
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.
Read moreBryostatin-1 in Long-term Use Seen to Arrest Fragile X Symptoms in Mouse Model
Long-term, but not short-term, treatment with bryostatin-1 — Neurotrope’s lead investigational therapy — arrested such behavioral and cognitive symptoms as hyperactivity, difficulties with daily life activities, and learning and memory deficits in a mouse model of Fragile X syndrome.
Read moreAllos Pharma Revives Arbaclofen After 7 Years: New Hope for Fragile X Syndrome
Experience the revival of arbaclofen as Allos Pharma Inc launches a new development program, providing renewed hope for the Fragile X community. Discover the impact of this experimental drug and the determination of those who never gave up.
Read morePositive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor Zatolmilast from 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.
Read moreOvercoming the Placebo Effect in Fragile X Clinical Trials
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”.
Read moreZygel May Improve Behavior in Children With Severe Fragile X, Trial Data Suggest
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.
Read moreHealx Drug Repurposing Programme for Fragile X Syndrome
David Brown, MD, PhD, Ivan Angulo-Herrera, PhD and Anthony Hall of Healx present about the Drug Repurposing Programme for Fragile X syndrome.
Read moreYale Researcher Dr. Elizabeth Jonas 1:1 with FRAXA
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.
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