The Endocannabinoid System and Fragile X Syndrome
This project will examine how CBD and other drugs targeting the endocannabinoid system affect hyperexcitable Fragile X neurons to identify new treatment strategies.
SRC Family Kinase Inhibitor as a Potential Treatment for Fragile X Syndrome
This $100,000 FRAXA grant will fuel the Smith lab’s new approach to treating Fragile X syndrome using Saracatinib, originally a cancer drug.
Using Exosomes to Discover Fragile X Biomarkers
Could a simple blood test show if a Fragile X treatment is working? This team is studying brain-derived exosomes as a new way to track treatment benefits.
Targeting Cognitive Function in Fragile X Syndrome
Why do males and females experience Fragile X differently? This team is studying brain signaling pathways to uncover sex-based differences and guide treatments.
Validating Novel Inhibitors of ERK Signalling to Treat Fragile X Syndrome
This team is testing ERK inhibitors — drugs that may calm overactive brain signaling in Fragile X. Early results in mice show strong benefits with minimal side effects.
Targeting Serotonin 1a Receptors to Reverse Neurobehavioral Phenotypes
Neurolixis’ new drug targets serotonin 1A receptors, showing promise in preclinical studies for Fragile X syndrome, funded by a FRAXA grant for future clinical trials.
mRNA Therapy for Fragile X Syndrome
Dr. Kathryn Whitehead helped develop the science behind the COVID-19 vaccines. Her team adapted this technology to deliver the Fragile X mRNA to brain cells.
Sigma-1 Receptor as a Therapeutic Target for Fragile X Syndrome
Researchers will test sigma-1 receptor drugs—like fluvoxamine, which activates this pathway—to see if they can correct Fragile X brain cell abnormalities.
Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice
Boosting serotonin 1A receptors may reduce excess brain activity in Fragile X. This study will test serotonin-1A–targeting compounds in mice to guide future treatments.
Transcriptional Signatures Sensitive to Cognition-Improving Pharmacological Treatments in Fragile X Syndrome
This team is defining Fragile X “molecular signatures” to use as biomarkers. They’ll test CBD and other drugs in mice and compare findings to human brain data.
Characterization and Modulation of microRNAs in Fragile X Syndrome
MicroRNAs are disrupted in Fragile X; the team will work to understand this and explore ways to correct it with drugs which directly target microRNAs.
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.
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.
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.
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.
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.
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.
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.
Targeting Mitochondria in Human Fragile X Syndrome Neurons
Fragile X brain cells have fewer, smaller mitochondria. This team tested mitochondria-boosting drugs that improved symptoms in mice to see if they can help humans.
Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1
FRAXA funded UCLA research on a Kv3.1-targeting drug to ease sensory issues in Fragile X. This work built on Yale-led work now also being pursued by Autifony Therapeutics.
Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome
FRAXA-backed work revealed NMDA receptors may hold the key to correcting brain signaling in Fragile X, pointing to new treatment strategies.