This project will examine how CBD and other drugs targeting the endocannabinoid system affect hyperexcitable Fragile X neurons to identify new treatment strategies.
Why do males and females experience Fragile X differently? This team is studying brain signaling pathways to uncover sex-based differences and guide treatments.
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.
Each year, FRAXA funds a diverse portfolio of research. Our FRAXA Fellowships are seed funding for the future, the feedstock for the Fragile X treatment development pathway. While we are looking to promote as many promising new approaches as possible, prominent themes emerge each year, as scientists around the world tackle previously neglected areas.
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.
Zynerba Pharmaceuticals reported receiving advice from the U.S. Food and Drug Administration (FDA) on the design of an upcoming Phase 3 clinical trial meant to confirm previous trial findings supporting Zygel as a cannabidiol treatment in a specific subset of Fragile X syndrome patients. The new trial, called RECONNECT, is expected to launch before October, and will mainly enroll children and adolescents with a complete (100%) methylation of FMR1, the gene mutated in Fragile X.
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.
The team studied how inhibitory brain circuits malfunction in Fragile X and tested ways to restore balance by targeting mGluR and endocannabinoid signaling.
Zynerba presented clinical trial results for Zygel at a recent neurology conference. Zygel, an experimental cannabidiol (CBD) gel, may reduce behavioral abnormalities in children with Fragile X syndrome who have more severe disease.
This FRAXA grant studied why people with Fragile X are overly sensitive to sound and tested drug strategies to calm the brain’s overactive auditory circuits.
Fragile X disrupts endocannabinoid signaling. This study in mice demonstrated that correcting it may calm brain hyperexcitability and improve symptoms.
CB1 blockade with rimonabant reversed cognitive, sensory, and seizure symptoms in FXS mice, highlighting the endocannabinoid system as a therapeutic target.
FRAXA-funded studies found faulty endocannabinoid signaling in Fragile X brain circuits for reward and emotion, and boosting 2-AG restored normal function.
