Meet Tyler!
Meet #FriendofFRAXA Tyler! Tyler enjoys visiting cemeteries to find his ancestors and loved ones. He also loves baking, listening to music, and going to train shows.
Identifying Cellular and Molecular Signatures in Human Neurons That Distinguish Fragile X Syndrome Patients with Divergent EEG Profiles
Just as Fragile X affects individuals differently, medications do as well. This project aims to bring personalized medicine to Fragile X syndrome.
Drug Tolerance in MGluR5 Clinical Trials – Dr Patrick McCamphill 1:1 with FRAXA
We suspected that clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance. Dr. Patrick does find tolerance, and is looking for ways to overcome it.
Pivotal Phase 3 Trial of Zygel in Severe Fragile X Possible This Year
Zynerba Pharmaceuticals received advice from the U.S. Food and Drug Administration (FDA) on the design of a Phase 3 clinical trial of Zygel as a cannabidiol treatment for Fragile X syndrome.
We Started Out Small, Now Look…
Join FRAXA in lighting up the world on July 22 for World Fragile X Day—together, we shine teal for Fragile X awareness!
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. The data from this phase 2 clinical trial suggests the PDE4D drug can improve intellectual disability in Fragile X syndrome.
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 this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause through a series of disappointing clinical trials.
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.
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 on your podcast! She shared our motivation for finding effective treatments and ultimately a cure for Fragile X.
Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells
Lynne Maquat discovered that many irregularities in cells that lack FMRP are due to misregulated nonsense-mediated mRNA decay, or NMD. Results published.
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.
Integrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach
Presentations by Craig Erickson, Ernest Pedapati, Devin Binder, and Kimberly Huber about their research on Fragile X as part of their NIH Center of Excellence.
Developing Arbaclofen for Fragile X – Dr. Mark Bear 1:1 with FRAXA
MIT professor Dr. Mark Bear founded Allos Pharma to develop arbaclofen (STX209) as a treatment for Fragile X syndrome. 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 at Emory University School of Medicine join us in this seminar to present Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.