Mara Dierssen, MD, PhD

Phase 1 Clinical Trial of Mega Green Tea Extract in Fragile X Syndrome

An early trial of green tea extract EGCG improved cognition in Fragile X. It targets ERβ and reduces overactive PI3K/mTOR/ERK signaling linked to FXS symptoms.

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Yue Feng, PhD

Functional Interplay Between FMRP and CDK5 Signaling

FRAXA-funded work showed CDK5 signaling is disrupted in Fragile X. CDK5 drugs are in development for Alzheimer’s so this pathway offers a promising new FX treatment angle.

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Tori Shaeffer

Development of a Novel GABA-A Agonist in Fragile X Syndrome

FRAXA funded analysis of a selective GABA-A drug for Fragile X, leading to a clinical trial at Cincinnati Children’s to test this potential treatment.

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Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

FRAXA-funded studies found faulty endocannabinoid signaling in Fragile X brain circuits for reward and emotion, and boosting 2-AG restored normal function.

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Fragile X Researcher, Cara Westmark, PhD

Ab-Mediated Translation in Fragile X Syndrome

This work found amyloid precursor protein (APP) overexpression and increased β-amyloid in Fragile X mice, implicating Alzheimer-related pathways in FXS pathology.

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A Metabolomic Drug Efficacy Index to Test Treatments in the Fragile X Mouse

This work revealed small-molecule metabolic changes in Fragile X brains and is using them to build a drug-efficacy index for screening therapies.

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Elizabeth Berry-Kravis, MD, PhD, Fragile X researcher

Clinical Trials Outcome Measures

In Fragile X participants, low-dose lithium showed benefits and helped refine biomarkers and behavioral assessments.

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Startle Modulation in Males with Fragile X Syndrome

FRAXA’s $42,720 grant helped Dr. Elisabeth Dykens uncover startle and PPI effects in Fragile X males. Results were published.

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FRAXA Funded Research

Current Research Grants (40)