Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain
Enhancing PKCε in early development normalized oxytocin, AMPAR signaling, and adult behavior in Fragile X mice, highlighting PKCε as a promising therapeutic target.
Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome
FRAXA funded the LovaMiX trial of lovastatin + minocycline for Fragile X. 2022 results show safety and support continued study of this dual-target treatment approach.
GABA-A Receptor in Fragile X Syndrome
Published results from Dr. Frank Kooy reveal how GABAA receptor changes may hold the key to treating Fragile X syndrome.
Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS
This team is designing tiny “peptidomimetic” drugs that mimic FMRP’s function to rebalance protein production in the brain, aiming to treat Fragile X at its source.
Cannabinoids as a Treatment for Fragile X Syndrome
This team uses EEG to study sensory hypersensitivity in Fragile X. By testing drugs in mice, they aim to find treatments that calm brain overactivity.
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.
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.
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.
Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells
Dr. Cara Westmark’s team will use mice to determine if palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.
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.
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.
Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells
This team aims to turn the FMR1 gene back on in Fragile X by identifying factors that reactivate the silenced gene and restore production of the missing FMRP protein.
Cholesterol-Dependent Changes in Fragile X Astrocytes
Astrocytes and cholesterol metabolism are altered in Fragile X. This research uncovers how these changes affect the brain and may reveal new treatment targets like lovastatin.
Considering Available Drugs for Fragile X: My Favorite Combination (So Far)
Which of the available drugs are best for managing fragile X syndrome? Most drugs have “off-target” effects which can have key advantages in some cases.
fNIRS to Measure Treatment Response in Young Children with Fragile X
The team tested functional near-infrared spectroscopy (fNIRS). fNIRS uses light sources and sensors on the scalp to build a heat map of the brain in action.
Targeting Adiponectin to Treat Fragile X Syndrome
Boosting adiponectin, a hormone that regulates metabolism, may improve cognition and behavior in Fragile X. Early results suggest it can restore brain plasticity.