FRAXA-Funded Research Explores ISRIB as a Potential Treatment for Fragile X

ISRIB for Fragile X syndrome is being studied as a potential treatment to restore brain function and social behavior. Researchers investigate its effects.

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Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital recruited children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.

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Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

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.

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Investigating the Role of the Insulin Degrading Enzyme (IDE) in Fragile X Syndrome

This study explores how disrupted insulin signaling affects metabolism and brain function in Fragile X, revealing new treatment targets for both body and mind.

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Mark Bear, PhD & Sara Kornfeld Simpson

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.

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Gene Editing of FMR1 to Correct FXS Phenotypes in Mice

This team is testing cutting-edge gene editing tools to correct Fragile X mutations in the brain using an advanced new mouse model.

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Fragile X Unplugged: Establishing Mobile EEG as the Next Frontier

A $100,000 FRAXA grant to Cincinnati Children’s Hospital is simplifying and testing EEG technology for home use, improving clinical trial accessibility and efficiency.

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Identification of the Proteome of Active and Silenced FMR1 Alleles in Human Stem Cells

This project aims to uncover which proteins keep the Fragile X gene silenced. By identifying them, the team hopes to find new ways to switch the FMR1 gene back on.

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To Interrogate the Developmental Timing for Treating Fragile X Syndrome

Are there critical periods in Fragile X syndrome? Will treatment work in adults as well as in children? This team aims to answer these questions.

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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.

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Pharmacologically Activating mGluR7 as a Novel Therapy for Fragile X Syndrome

Join Dr. Tsai and Dr. Kumar on a journey into novel treatments for Fragile X syndrome. Activating mGluR7 could be a game-changer, opening up uncharted therapeutic territory.

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Unveiling Probiotic Potential in Fragile X Syndrome Clinical Trial

First of its kind in Serbia, this clinical trial explores probiotic intervention as a potential treatment avenue for Fragile X syndrome.

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Pharmacological Modulation of Nicotinic Signaling

This study tests whether blocking certain nicotine-sensitive receptors in the brain during adolescence can improve attention and cognition in Fragile X.

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Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

This team studied how faulty calcium signaling in astrocytes contributes to sensory hypersensitivity in Fragile X, aiming to find new astrocyte-targeted treatments.

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

This project aims to reactivate the FMR1 gene to combat Fragile X Syndrome, with the goal of restoring vital protein function. This work is now funded by a new FRAXA grant.

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C-subunit Mitochondrial Leak Channel in Fragile X Syndrome

Explore Yale’s groundbreaking study on mitochondrial leak channels, set to revolutionize Fragile X syndrome treatment. Funded by a $100,000 FRAXA grant.

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Somatosensory Processing as a Therapeutic Target for Fragile X Syndrome

FRAXA-funded researchers in Edinburgh assessed a noninvasive touch test that could be used for clinical trials in Fragile X syndrome.

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Antisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids

Explore Dr. Richter’s encouraging results with ASOs for Fragile X syndrome. A $100,000 grant now fuels pivotal studies needed to advance toward ASO therapy.

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Slack Potassium Channel Inhibitors to Normalize FMR1 Knockout Mice

FRAXA research grant enabled Yale researchers to investigate whether Slack potassium channel inhibitors can normalize behaviors in FMR1 knockout mice.

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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.

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Modeling Fragile X Syndrome using Multi-Region Human Brain Organoids

The team is developing new, more accurate Fragile X brain organoids to help researchers study neural circuit problems and accelerate testing of future treatments.

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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.

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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.

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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.

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FRAXA Funded Research

Current Research Grants (38)