NPR Feature – A Fragile X Treatment May Be On The Horizon
NPR’s Jon Hamilton looks back on a decade of Fragile X progress and the Tranfaglia family’s quest for a cure. Hear their story on NPR Short Wave.
Pharmacotherapeutic Effects of Cannabidiol (CBD) in Fragile X syndrome (FXS) and Autism Spectrum disorder (ASD)
This study tested CBD (cannabidiol) treatment in male and female Fragile X mice to learn how and why it works and whether gender affects responses to CDB treatment.
NPR Short Wave, “A Fragile X Treatment May Be On The Horizon”
Katie Clapp and Michael Tranfaglia’s son was born with a genetic disorder that affects brain development. It makes it hard to learn language and basic daily tasks and often is accompanied by a host of other disorders. To help find a cure, they started a foundation and raised research money. After se…
Holly Roos Joins the FRAXA Team!
We’re thrilled to welcome Holly Roos, longtime Fragile X advocate, as FRAXA’s new Community Services Director!
Brain & Life, “A Mom Leads Efforts to Cure Fragile X Syndrome for Her Son and Others”
We haven’t found a cure yet, but we’ve moved closer to understanding fragile X syndrome and identifying treatment targets. We hope this will help our son and other families dealing with this life-changing condition.
Tetra 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.
Cellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome
The team studied how inhibitory brain circuits malfunction in Fragile X and tested ways to restore balance by targeting mGluR and endocannabinoid signaling.
FRAXA Supports Increased Funding for NICHD
FRAXA has joined the Friends of NICHD coalition, urging increased government funding for research into Fragile X and related conditions.
Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X
FRAXA-funded studies found Fragile X mice show altered auditory circuit function with delayed startle timing and reduced prepulse inhibition, mirroring human sound sensitivity.
Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey
In November 2020, a phase II clinical trial reported extremely successful results. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.
Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome
This Stanford University team assessed combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome. Results published.
Educating Young Children with Fragile X Syndrome
We share strategies, tips, techniques, and stories to help teachers and therapists who are working with young children who have Fragile X syndrome.
Parkinson’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.
The 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.
Beneath 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.
COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say
COVID-19 vaccines recently approved worldwide are expected to pose little risk to the rare disease community, including Fragile X patients.
Fragile 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.
Integrating 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.
Interrogate the Functions of FMRP in Brain Development Using Stem Cells
Dr. Xinyu Zhao of the Waisman Center and Department of Neuroscience at University of Wisconsin-Madison joins us in this seminar to present Interrogate the Functions of FMRP in Brain Development Using Stem Cells.
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.
Sincere Gratitude for a Successful #GivingTuesday 2020
From the bottom of our hearts—thank you! With 150+ donors, FRAXA raised $70,047 on #GivingTuesday. Your support brings hope to Fragile X families.
Bryostatin-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.
Allos 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.