Targeting Adiponectin to Treat Fragile X Syndrome

Targeting Adiponectin to Treat Fragile X Syndrome

FRAXA Research Foundation has awarded a $30,000 research grant to principal investigator Brian Christie, PhD, and postdoctoral fellows Jonathan Thacker, PhD, and Luis Bettio, PhD, at the University of Victoria. They are investigating whether boosting the hormone adiponectin can effectively treat Fragile X syndrome. This project is funded in partnership with the Fragile X Research Foundation of Canada, which is providing an additional $15,000.

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Targeting Mitochondria in Human Fragile X Syndrome Neurons

Targeting Mitochondria in Human Fragile X Syndrome Neurons

FRAXA Research Foundation has awarded a $90,000 research grant to principal investigator Dr. Xinyu Zhao and postdoctoral fellow Dr. Minjie Shen at the University of Wisconsin. They are investigating whether drugs which boost mitochondria — which provide the energy for cells — could treat Fragile X syndrome. Dr. Zhao explains in this video. With this award, FRAXA has funded almost $1 Million in Fragile X research at the University of Wisconsin!

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA Research Foundation and The Pierce Family Fragile X Foundation have awarded a 2019 grant of $90,000 to Dr. Jeannie Lee’s lab at Harvard and Massachusetts General Hospital. They have discovered a method that will reactivate the FMR1 gene by treating cells with a cocktail of small molecules, under a specific regimen in vitro (patent filing pending).

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Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

FRAXA has awarded a $90,000 grant to Carlos Portera-Cailliau, PhD and Nazim Kourdougli, PhD at UCLA to investigate whether a novel drug can rescue sensory processing deficits in Fragile X mice. People with Fragile X have similar problems in sensory processing. This new drug acts on Kv3.1, a promising Fragile X treatment target also being pursued by UK-based Autifony Therapeutics based on FRAXA-funded research done at Yale.

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Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Dr. Stephanie Barnes has been investigating the role of NMDA receptors as a FRAXA Postdoctoral Fellow in Dr. Emily Osterweil’s laboratory at the University of Edinburgh from 2016-2018. With an additional year grant from FRAXA, she is now continuing her work to identify novel targets and test pharmacological therapies in the Fragile X mouse model at the Picower Institute at MIT with Dr. Mark Bear.

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Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

FRAXA Research Foundation has awarded a $90,000 grant to Principal Investigator Dr. Sean McBride and Postdoctoral Fellow Dr. Karen Joyce, at Rowan University, to screen all 2,320 FDA-approved drugs on both mouse and fly models of Fragile X syndrome. Those drugs which show promise will be tested in more detail for potential to treat Fragile X in humans.

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Novel Modulators of Potassium Channels to Treat Fragile X

Novel Modulators of Potassium Channels to Treat Fragile X

With funding from FRAXA over 2015-2017, the Yale University team of Leonard Kaczmarek, PhD showed that the firing patterns of auditory neurons in response to repeated stimulation is severely abnormal in Fragile X mice. Based on these results, they are collaborating with the UK-based company Autifony to develop advanced compounds which may reverse these deficits.

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Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.

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Research Points to Drugs which Inhibit PDE to Treat Fragile X

Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation funded a grant of $90,000 over 2016-2018, for a postdoctoral fellowship for Thomas Maurin, PhD, working under the mentorship of Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein. They have found that PDE inhibitors (a class of drugs) show promise as treatments for Fragile X syndrome. In related research, FRAXA is currently funding a clinical trial of PDE4D inhibitors.

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Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

This 2017-2018 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada for the first year. A previous FRAXA grant to the Sonenberg lab has led to great interest in the available drug, metformin, as a potential treatment for Fragile X syndrome. FRAXA is currently organizing clinical trials of metformin.

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NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model

NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model

With $258,000 in grants since 2013 from FRAXA Research Foundation, Dr. Anis Contractor and Dr. Qionger He at Northwestern University are exploring the potential of the available drug bumetanide to correct altered GABA signalling in a mouse model of Fragile X syndrome.

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Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Drs. Devin Binder, Iryna Ethell, and Patricia Pirbhoy at the University of California at Riverside aim to understand – and reverse – hypersensitivity to sound in Fragile X syndrome.

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Three-Dimensional Model for Identifying Fragile X Treatments

Three-Dimensional Model for Identifying Fragile X Treatments

With a $90,000 grant from FRAXA Research Foundation awarded in 2018, Dr. Peng Jin and Dr. Juhnee Kang at Emory University will develop and analyze Fragile X brain organoids to understand the disorder and identify treatment targets.

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Pharmacological Tolerance in the Treatment of Fragile X Syndrome

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation, Dr. Patrick McCamphill and Dr. Mark Bear at Massachusetts Institute of Technology (MIT) will further investigate drug tolerance and ways to overcome it. 

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Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

With a $90,000 grant from FRAXA Research Foundation awarded over 2016-2017, University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, are exploring drug combinations to limit hypersensitivity to sounds in Fragile X mice.  

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MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

Almost all brain research focuses on neurons – nerve cells. However, the brain has many more glial cells which support, nourish, and protect the neurons. FRAXA Research Foundation awarded a 2017 grant $90,000 to support Dr. Yang’s studies of how changes in glial cells contribute to Fragile X syndrome. This grant is funded by a grant from the Pierce Family Fragile X Foundation.

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Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCepsilon Signaling in the Brain

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCepsilon Signaling in the Brain

FRAXA Research Foundation has made a 2017 grant of $90,000 to Probal Banerjee, PhD, at the College of Staten Island (CUNY). He is exploring a therapeutic strategy based on correcting abnormalities in the PKCepsilon signaling pathway in Fragile X. 

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Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome

Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome

Dr. Suzanne Zukin, at Albert Einstein College of Medicine, is expert on signaling pathways in the brain and the regulation of synaptic plasticity. With this 2017 grant of $90,000 from FRAXA Research Foundation, she and her team are exploring autophagy, which is how cells clean house, in Fragile X.

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Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists

Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists

With $217,500 in grants from FRAXA Research Foundation, Dr. Karen O’Malley and team studied the function of mGluR5 when it is inside cells. Many of the symptoms of Fragile X Syndrome (FXS) are thought to arise due to overactive metabotropic glutamate receptor 5 (mGluR5) signaling, which is normally opposed by the protein missing in FXS, Fragile X Protein (FMRP).

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Mechanisms of Tolerance to Chronic mGluR5 Inhibition

Mechanisms of Tolerance to Chronic mGluR5 Inhibition

Over the past few years, both Novartis and Roche sponsored large-scale clinical trials of metabotropic glutamate receptor 5 (mGlu5) negative allosteric modulators (NAMs) to treat Fragile X syndrome (FXS). With a $90,000 grant from FRAXA Research Foundation in 2015-2017, Dr. Mark Bear’s team will explore if mGlu5 NAMs dosed chronically causes tolerance, and if so, how it develops and to probe new avenues to prevent or circumvent it.

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Prefrontal Cortex Network (PFC) Dynamics in Fragile X Syndrome

Prefrontal Cortex Network (PFC) Dynamics in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Daniel Johnston and Dr. Jenni Siegel at the University of Texas at Austin are analyzing pre-frontal cortex (PFC) dysfunction in the Fragile X model. They have preliminary evidence that Fragile X mice are severely impaired in a prefrontal cortex (PFC)-dependent task.

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Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

With a $35,000 grant from FRAXA Research Foundation in 2016, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.

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Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

With a $45,000 grant from FRAXA Research Foundation in 2009, Dr. Mark Bear and Dr. Asha Bhakar used High Content Screening (HCS) to develop an assay sensitive to the effect of the FXS genotype. This project was funded in full by NIH after the first year.

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Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation funded during 2014-2015, Dr. Frank Kooy and colleagues at the University of Antwerp are conducting a double blind crossover trial of ganaxolone in patients with Fragile X syndrome. Results of this study were mixed (see Marinus: Results from Phase 2 Exploratory Clinical Study Support Continued Development of Ganaxolone in Fragile X Syndrome.

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Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

FRAXA Research Foundation awarded $122,000 over 2016-2018 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

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