Clinical Trial of Metformin for Fragile X Syndrome

Clinical Trial of Metformin for Fragile X Syndrome

Metformin is commonly prescribed to control high blood sugar in type 2 diabetes. With a $50,000 grant from FRAXA Research Foundation, Dr. Artuela Çaku and Dr. Francois LePage are conducting an open-label clinical trial of metformin for children and adults with Fragile X syndrome, at the University of Sherbrooke in Canada.

Galarneau lab teamRead more

Developmental Profile of Glutamatergic Synapses in Fragile X

Developmental Profile of Glutamatergic Synapses in Fragile X

FRAXA Research Foundation has awarded a $90,000 research fellowship to Dr. Tue Banke. With this award, Dr. Banke is investigating how glutamate receptors at neuronal synapses – essential building blocks of learning and memory – are impacted in Fragile X syndrome. Dr. Banke recently left Aarhus University in Denmark to continue his research first as a visiting scholar and now as an assistant professor at the University of Washington.

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Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation and the Fragile X Research Foundation of Canada have awarded a grant of $100,000 over two years to Dr. Raymond Turner at the University of Calgary in Alberta, Canada. Dr. Turner and postdoctoral fellow Xiaoqin Zhan, PhD are attempting to reactivate a segment of FMRP to reverse symptoms of Fragile X in a mouse model of the disease to reduce abnormal behaviors.

Ray Turner, PhD and Xiaoqin Zhan, PhDRead more

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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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.

Antonella Borreca, PhD, and Alberto Martire, PhDRead more

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X.

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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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Activity-Dependent Translational Profiling in Fragile X Neurons

Activity-Dependent Translational Profiling in Fragile X Neurons

FRAXA’s first-ever grant to researchers at the University of California at Berkeley goes to Dr. Nicholas Ingolia and Dr. J. Wren Kim to analyze the proteomics of Fragile X neurons using a newly developed tool which can distinguish the profiles of neurons that are actively responding to signals.

Drs. Ingolia, Wren Kim, at University of California at BerkeleyRead more

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.

Devon Binder, PhD; Iryna Ethell, PhD, Patricia Pirbhoy, PhD, at UC Riverside School of MedicineRead more

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.

Peng Jin Team at Emory UniversityRead more

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 over 2018-2019, Dr. Patrick McCamphill, postdoctoral fellow in Dr. Mark Bear’s lab at Massachusetts Institute of Technology (MIT), is investigating drug tolerance to mGluR5 antagonists, arbaclofen, and other potential Fragile X treatments. He is also exploring ways to overcome it.

Patrick McCamphillRead more

Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X

Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X

FRAXA Research Foundation initially partnered with Healx in 2016 to identify existing drugs with potential to treat Fragile X syndrome, using machine learning algorithms and computational biology.  The study produced results, and now FRAXA and Healx have launched a new round of studies to evaluate combinations of compounds, including both drugs and natural products.

Healx team 2018Read more

Fragile X Clinical Trial of AZD7325 in Adults

Fragile X Clinical Trial of AZD7325 in Adults

With a $51,000 grant from FRAXA Research Foundation, Dr. Craig Erickson conducting a double-blind, placebo-controlled clinical trial of AZD7325 in adults ages 18-50 with Fragile X syndrome at Cincinnati Children’s Hospital.  The compound being studied is an investigational new drug from AstraZeneca that targets GABA (A) receptors.

Craig Erickson, MD, Cincinnati Children's HospitalRead more

Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

Drs. Mahmoud Pouladi and Kagistia Utami at the Agency for Science, Technology and Research (A*STAR) in Singapore have won a $67,500 research grant from FRAXA Research Foundation. Their goal is to reactivate the gene which is silenced in people who have Fragile X syndrome.

Mahmoud A. Pouladi, PhD & Kagistia Utami, PhD of National University of Singapore and Agency for Science, Technology and Research (A*STAR)Read more