Clinical Trial of Metformin for Fragile X Syndrome
FRAXA-funded open-label trial found that metformin led to increased GABA-mediated cortical inhibition, suggesting metformin modulates core Fragile X pathways.
Correcting the Brain’s Emotional Memory Center
FRAXA Investigator Dr. Sumatra Chattarji investigated the synaptic basis of deficient conditioned fear and its reversal in Fragile X syndrome rats. Results published.
Purposeful and FRAXA Partnership Leads to Clinical Trial
AI and FRAXA-DVI identified a drug + supplement combo that reversed all Fragile X symptoms in mice. A clinical trial tested this in adults with Fragile X.
Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X
This team previously discovered runaway nonsense-mediated mRNA decay (NMD) in cells of Fragile X patients. They will now test drugs to reduce NMD.
Exploring Drug Repurposing to Restore Hippocampal Function in FXS Mouse Models
This team found a key mechanism by which FMRP controls brain connections. They’ll test existing drugs that target this pathway to restore learning and memory in Fragile X.
Contribution of Microglia to the Therapeutic Effects of Metformin and Adiponectin in Fragile X Syndrome
Why are some with Fragile X always hungry or overweight, yet rarely diabetic? This team is studying metabolism and testing treatments like metformin and diet.
20 Years of Advancing Fragile X Research: Progress Toward a Cure
MIT Professor Mark Bear traces the discoveries that give us great optimism of finding effective treatments and ultimately a cure for Fragile X syndrome.
Brain Organoids, Moving Fragile X Research Forward
FRAXA-funded scientists at Emory created human brain organoids that reveal Fragile X changes more clearly than mouse models, opening new paths to targeted treatments.
Tetra’s Fragile X Clinical Trial – The Most Successful So Far
Dr. Mark Gurney 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: a phase 2 trial of a PDE4D inhibitor.
Alternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome
This team found 1,600 blood-based Fragile X biomarkers that vary by individual—opening the door to personalized treatment and better ways to measure progress.
2021 FRAXA Awards – Recognizing Perseverance and Dedication
In conjunction with World Fragile X Day 2021, FRAXA Research Foundation recognizes its annual award recipients. We are fortunate to partner with these individuals for Fragile X families.
Link Between Lipid Profile, eCBome System and Gut Microbiome in Fragile X Syndrome
Why does obesity challenge so many people with Fragile X? Dr. Caku’s team has found that Fragile X syndrome causes changes in the tiny organisms that live in our gut.
Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Model
Microglia are excessively activated in Fragile X models. The team will investigate the mechanisms and attempt to correct this using drugs.
The Role of Astrocyte BMP Signaling in Fragile X Syndrome
Researchers found a pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug.
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.
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.
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.
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.
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.
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.
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.