Studies of Mega Green Tea Extract to Treat Fragile X Syndrome

Studies of Mega Green Tea Extract to Treat Fragile X Syndrome

With a $124,000 grant from the FRAXA Research Foundation from 2012-2014, Dr. Mara Dierssen and Dr. Rafael de la Torre conducted preclinical studies in fragile X knockout mice and a clinical trial in fragile X patients using Mega Green Tea Extract, which contains 45% by weight epigallocatechin gallate (EGCG).

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Social Behavior as an Outcome Measure for Fragile X Clinical Trials

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

One of the features of the fragile X mouse model which is relevant to the human fragile X syndrome (and autism) is social behavior. Several tests show consistent social behavioral abnormalities in the fragile X mouse model. With a $140,000 grant from FRAXA Research Foundation in 2012-2013, Dr. Willemsen at Erasmus University used social behavior tests to measure the effectiveness of several drug strategies.

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

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

Of the many genes known to be regulated by FMRP, the gamma-aminobutyric acid receptor A (GABA(A)), is gaining attention as a potential target for the treatment of FXS. Mounting evidence suggests decreased expression and functioning of GABA(A) is involved in the pathophysiology of FXS. Non-selective GABA(A) agonism in animal models of FXS has been associated with normalization of morphological features, GABA(A) expression, and behavior. However, the clinical use of these agents in fragile X is associated with unwanted side-effects, such as sedation, dulling of cognition, and occasional paradoxical agitation, which limits their use. Given the limitations in available GABA(A)-based treatment of FXS, this group plans to investigate a novel selective GABA(A) agonist in a mouse model of FXS. This agent has the potential to relieve many symptoms of fragile X without the unwanted side effects.

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Neuromotor Outcome Measures for Clinical Trials in Fragile X Syndrome

Neuromotor Outcome Measures for Clinical Trials in Fragile X Syndrome

With a $35,000 grant from FRAXA Research Foundation, Dr. Nicole Tartaglia from the University of Colorado Denver and Tracey Stackhouse aimed to develop neuromotor outcome measures for use in clinical trials in FXS, and to contribute to a deeper understanding of the neuromotor issues involved in FXS. This collaborative project was completed at the two sites of the Colorado Fragile X Clinic: The Children’s Hospital and Developmental FX. Dr. Nicole Tartaglia is the Medical Director of the Fragile X Clinic at The Children’s Hospital of Denver. Tracy Murnan Stackhouse, MA, OTR is the co-founder of the Developmental & Fragile X Resource Centre (Developmental FX), a clinic specializing in fragile X.

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