FRAXA Drug Validation Initiative (FRAXA-DVI)
The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing to validate investigational and repurposed compounds for Fragile X.
Altered Physiology of Primary Visual Cortex in Fragile X Syndrome
This team believes inhibitory neurons expressing somatostatin are impaired in Fragile X. They will see if stimulating these neurons has therapeutic potential.
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.
Developmental Motor Phenotype in Fragile X Syndrome
A little known sign of Fragile X is unsteady walking. This team is developing outcome measures of gait for future treatment trials. Results published.
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.
Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7
Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital is recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.
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.
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.
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.
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.
Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients
FRAXA funded a study using blood-based transcriptomics to find reliable Fragile X biomarkers. This unique approach links molecular data to behavior for future trials.
Non-Invasive Imaging as a Biomarker for Fragile X Clinical Trials
FRAXA funded MRI research to track brain connectivity changes in Fragile X. This could yield objective biomarkers for testing treatments in mice and humans.
Fragile X Clinical Trial of AZD7325 in Adults
FRAXA funded a trial of AZD7325, a drug that boosts GABA(A), in adults with Fragile X. Led by Dr. Craig Erickson, it also tested innovative biomarkers for future trials.
Brain Imbalance Target of Dr. Erickson’s New Clinical Trial
According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X.
Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers
University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, explored drug combinations to limit hypersensitivity to sounds in Fragile X mice.
Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists
This study showed that selectively targeting mGluR5 receptors in specific neuronal compartments can correct distinct Fragile X synaptic defects, improving precision therapy.
Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials
Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.
Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X
FRAXA Research Foundation awarded $122,000 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.
Biomarker Discovery and Validation for Fragile X Syndrome
This grant supported discovery of protein-based biomarkers for Fragile X to create objective outcome measures that translate from mouse studies to human trials.
A Kinase Assay as a Biomarker for Fragile X Syndrome
Dr. Frank Kooy at the University of Antwerp investigated whether phosphorylation abnormalities are a suitable biomarker for clinical trials in Fragile X syndrome.
MicroRNAs as Biomarkers in Fragile X Syndrome
The team at Johns Hopkins University studied groups of small RNAs, known as microRNAs, which are greatly decreased in brain tissue of Fragile X mice vs. normal controls.
Altered Sleep in Fragile X Syndrome: Basis for a Potential Therapeutic Target
With this FRAXA grant, Dr. Carolyn B. Smith and Dr. Rache Sare at the National Institute of Mental Health investigated the basis of sleep problems in Fragile X syndrome.
Identifying Biomarkers for Fragile X Syndrome – A Study in Argentina
Bio·mark·er, noun, a distinctive biological or biologically derived indicator of a process, event, or condition. Doesn’t help? Well, it’s perfectly clear to Argentinian researchers Patricia Cogram, PhD, and Paulina Carullo, MD, from the FLENI Institute in Buenos Aires, Argentina. They understand there is an urgent need for validated biomarkers after recent Fragile X syndrome clinical trials have failed on their primary endpoints.
Targeting AMP-Activated Protein Kinase Pathway in Fragile X Syndrome
With this grant from FRAXA, Dr. Peter Vanderklish explored AMPK activators to treat Fragile X. Both metformin and resveratrol, found in red wine, are AMPK activators.