Using Exosomes to Discover Fragile X Biomarkers
How can a blood test give an accurate picture of brain activity? The team will use exosomes – which travel from brain cells to the blood stream – to evaluate the effects treatments are having on the brain.
FRAXA Investigator Lynne Maquat Awarded 2023 Gruber Genetics Prize
Dr. Maquat discovered NMD, a key surveillance system in the body that protects against mistakes in gene expression. With funding from FRAXA she is tackling Fragile X syndrome.
Coming Together for Rare Disease Day 2023
Today we mark Rare Disease Day. FRAXA is committed to advancing research on Fragile X, one of the most common rare diseases worldwide.
Targeting Cognitive Function in Fragile X Syndrome
This project explores how Fragile X affects males and females differently by studying two brain signaling systems, endocannabinoid and cholecystokinin (CCK), to find new treatment targets.
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.
A Look Back at 2022 and Ahead to 2023 Research Prospects
FRAXA supporters met the $100K Giving Tuesday challenge—raising $269,744! Your actions truly spoke louder than words. Thank you!
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.
Meet Ryder!
Meet #FriendofFRAXA Ryder! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram
In this video we hear from FRAXA Investigators Dr. Patricia Cogram, Professor at the University of Chile, and Dr. Elizabeth Berry-Kravis, Professor at Rush University Medical Center as they reflect on the progress that has been made and visualize what they see happening in the next 10 years for people living with Fragile X syndrome.
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.
$269,774 Raised for Fragile X Research on #GivingTuesday
Thank you for making #GivingTuesday historic! With matching gifts, FRAXA raised $269,774—an incredible show of support!
Clinical Trial Results Reported for Phase 3 CONNECT-FX Study of Zygel™
Results have just been published from Zynerba Pharmaceuticals’s phase 3 clinical trial of Zygel™ in the Journal of Neurodevelopmental Disorders. In this trial, 212 children and adolescents aged 3 to 17 years were given Zygel or placebo for 12 weeks.
Sigma-1 Receptor as a Therapeutic Target for Fragile X Syndrome
Dr. Pouladi’s team is exploring a treatment of Fragile X via the sigma-1 receptor. Drugs that boost activity at sigma receptors tend to calm down overactive neurons. They are also powerful anti-inflammatory drugs.
Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra
With a $200,043 grant from FRAXA Research Foundation, Dr. Elizabeth Berry-Kravis completed a successful Phase 2 clinical trial of a PDE4 inhibitor for adult men with Fragile X syndrome. This trial treated 30 males, 18-45 years of age with a new PDE4D allosteric inhibitor from Tetra Discovery Partners using a crossover design, so that everyone got active drug for part of the time and placebo for part of the time.
Versatile Drug Screening Platform for Fragile X Syndrome
Combinations of drugs may be needed to treat Fragile X syndrome. How can we find the best combinations in the ideal doses? This project tackles this challenge.
Human FMR1 Isoform-Specific Regulation of Translation and Behavior
Fragile X syndrome is caused by lack of one protein, FMRP. But this one protein occurs in different variations. Do the different versions of FMRP have different roles in the brain, and if so, is there one that’s key? If we could replace FMRP to treat Fragile X syndrome, which version would we use?
Meet Conor!
Meet #FriendofFRAXA Conor! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Meet Tobias!
Meet #FriendofFRAXA Tobias! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Functional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain
The brain’s balance is maintained by two types of neurons: excitatory and inhibitory. This team has found fewer than normal inhibitory cells in Fragile X mice.
Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice
Dr. Canal has discovered a promising treatment approach for Fragile X syndrome: new compounds which specifically and potently boost serotonin in the brain. The target is the brain’s serotonin 1A receptor.
FRAXA Volunteer Participates in Peer Reviewed Medical Research Program for the Department of Defense
FRAXA nominated advocate, Jennifer Frobish, recently evaluated research applications submitted to the Peer Reviewed Medical Research Program (PRMRP) of the Congressionally Directed Medical Research Programs (CDMRP).
Families Come from Multiple States for Flatbread Pizza Fundraiser
We met Katie and other Fragile X families who welcomed us with open arms—it’s a wonderful feeling to know we’re not alone.
World Fragile X Day Is Lighting the Way for Fragile X Research
On July 22, 383 landmarks worldwide lit up for World Fragile X Day—shining bright to raise awareness and celebrate research progress.
Why Pharma Companies Take on Fragile X, Explained
Research aimed at finding Fragile X syndrome treatments is exploding. Why are so many pharmaceutical and biotech companies investing in this orphan indication? FRAXA chief scientific officer Dr. Michael Tranfaglia explains the many reasons Fragile X is such a hot topic.