Kaerus Bioscience’s BK channel openers for Fragile X syndrome are advancing through Phase 1 trials, offering hope for new treatments with FRAXA’s continued support.
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Identification of the Proteome of Active and Silenced FMR1 Alleles in Human Stem Cells
This team’s ultimate goal is to find a way to restore full function of FMR1, the gene which underlies Fragile X syndrome. With this grant, they will use advanced technologies to find the specific proteins that are involved in keeping FMR1 silenced. Understanding precisely why and how the gene is silenced is a key step toward finding a solution.
Read moreFragile X Treatment Target Emerges from Neurolixis & FRAXA Collaboration
A new treatment target for Fragile X syndrome has emerged from multiple research labs and a pharmaceutical startup. Neurolixis, a FRAXA pharma partner, has announced a new Fragile X development program.
Read moreASOs and Fragile X: Addressing the Most Asked Questions
Explore the potential of ASOs in treating Fragile X syndrome & FXTAS. Dive into a comprehensive Q&A addressing key questions and breakthrough findings.
Read moreBreakthrough Discoveries in Fragile X Research: Insights from Special Banbury Meeting on Curative Therapies
Explore the latest breakthroughs in Fragile X research unveiled at the recent Banbury Meeting. Discover novel strategies, from gene therapy to protein replacement, that bring hope for curative therapies.
Read moreUsing Exosomes to Discover Fragile X Biomarkers
How can a blood test give an accurate picture of brain activity? With this grant from FRAXA, Dr. Martire and Dr. Boussadia will try to use unique particles called exosomes – which can travel from brain cells to the blood stream – to evaluate the effects treatments are having on the brain.
Read moreFragile X Clinical Trial of New PDE4D Inhibitor from Tetra
With a $200,043 grant from FRAXA Research Foundation, Dr. Elizabeth Berry-Kravis completed a successful Phase 2 clinical trial of a PDE4 inhibitor for adult men with Fragile X syndrome. This trial treated 30 males, 18-45 years of age with a new PDE4D allosteric inhibitor from Tetra Discovery Partners using a crossover design, so that everyone got active drug for part of the time and placebo for part of the time.
Read moreTargeting Serotonin 1A Receptors in Fmr1 Knockout Mice
Dr. Canal has discovered a promising treatment approach for Fragile X syndrome: new compounds which specifically and potently boost serotonin in the brain. The target is the brain’s serotonin 1A receptor.
Read moreFMR1 Renamed to Fragile X Messenger Ribonucleoprotein 1
The efforts of the European Fragile X Network (EFXN) have led to the renaming of the FMR1 gene to “Fragile X Messenger Ribonucleoprotein 1” gene and the Fragile X protein, FMRP, to “Fragile X Messenger Ribonucleoprotein.” Families around the globe are celebrating the news as a significant step forward for acceptance and the removal of a term that evokes many negative feelings.
Read moremRNA Therapy for Fragile X Syndrome
Dr. Kathryn Whitehead, Associate Professor at Carnegie Mellon University, helped develop the revolutionary science behind the COVID-19 vaccines. With a $103,000 grant from FRAXA, her team will now adapt this technology to deliver the missing Fragile X protein, to treat people who have Fragile X syndrome.
Read moreRecruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7
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.
Read moreCorrecting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain
With this $90,000 grant from 2017-2018, Dr. Banerjee’s team has shown that enhancing PKCε can correct brain development and abnormal behaviors in Fragile X knockout mice and had their findings published in PubMed.
Read moreFX-Learn Clinical Trial for Children with Fragile X
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.
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 moreMemorial Tribute to Dr. Stephen T. Warren
Dr. Stephen T. Warren passed away on June 6, 2021. In 1991, Dr. Warren discovered the genetic mutation which causes Fragile X Syndrome and named it FRAXA. Donations can be made in his honor to FRAXA Research Foundation.
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 moreFRAXA Drug Validation Initiative (FRAXA-DVI)
The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential Fragile X treatments. FRAXA-DVI uses in-vitro systems, behavior batteries, and gene expression and peripheral biomarker platforms to validate investigational new drugs and repurposed available compounds in Fragile X syndrome (FXS).
Read moreCellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome
Studies have shown that the function of inhibitory networks is disturbed in Fragile X. This abnormality is not well understood but appears to be secondary to abnormalities in metabotropic glutamate and endocannabinoid systems. With a $90,000 grant from FRAXA, Dr. Molly Huntsman’s team examined how these networks interact and how inhibitory deficits can best be remedied.
Read moreFRAXA Supports Increased Funding for NICHD
Within the past month, FRAXA Research Foundation has signed on to join the Friends of of National Institute of Child Health and Human Development (NICHD), asking for an increase government funding to research disorders such as Fragile X syndrome.
Read moreAuditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X
With a $90,000 grant from FRAXA, Dr. McCullagh and Dr. Achem Klug at the University of Colorado investigated whether auditory neural circuits are altered in Fragile X mice. They saw minor differences in these mice compared to B6 (control) mice in several measures of auditory acuity. Fmr1 mice had increased latency to the startle response for almost all conditions compared to B6 mice, suggesting altered timing to acoustic cues. These experiments show that, consistent with patient reports and anatomical/physiological data, the auditory system is altered in a mouse model of FXS, though with some potential compensation leading to a subtle behavioral impact.
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 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
Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids
Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.
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 moreCenters for Collaborative Research in Fragile X Receive $25 Million Over Next 5 Years
National Institutes of Health (NIH) has announced funding for three Centers for Collaborative Research in Fragile X. The centers will receive $25 million over the next 5 years. Funding for the centers comes from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute of Mental Health (NIMH), and the National Institute of Neurological Disorders and Stroke (NINDS).
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