Current Research Grants Archives • Page 2 of 2 • Fragile X Research

Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Bardoni, Barbara • Current Research Grants • Disease Mechanisms • INSERM Valbonne, France • Maurin, Thomas • Treatment Targets November 4, 2018November 14, 2018mRNAs, PDE4, Tetra Therapeutics

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.

Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

FRAXA Research Foundation 2017 Grants • 2018 Grants • Current Research Grants • Disease Mechanisms • Gantois, Ilse • McGill University • Sonenberg, Nahum • Treatment Targets November 2, 2018November 20, 2018Alzheimer's, autism, cancer, Fragile X Research Foundation of Canada, metformin

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.

Activity-Dependent Translational Profiling in Fragile X Neurons

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Current Research Grants • Disease Mechanisms • Ingolia, Nicholas • Kim, J. Wren • University of California at Berkeley July 12, 2018May 15, 2020

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 Berkeley

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Binder, Devin • Current Research Grants • Ethell, Iryna • Pirbhoy, Patricia • Treatment Targets • University of California at Riverside June 20, 2018May 15, 2020CBD, EEG, endocannabinoid, hyperexcitability, hypersensitivity, matrix metalloproteinase, minocycline, MMP9, sound

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 Medicine

Three-Dimensional Model for Identifying Fragile X Treatments

FRAXA Research Foundation 2018 Grants • 2019 Grants • Current Research Grants • Emory University • Jin, Peng • Kang, Yunhee • Resources • Treatment Targets • Wen, Zhexing May 16, 2018December 24, 2019neural stem cells, organoid

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.

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • 2019 Grants • 2020 Grants • Bear, Mark • Current Research Grants • Massachusetts Institute of Technology (MIT) • McCamphill, Patrick • Treatment Targets May 9, 2018May 21, 2021AFQ056, arbaclofen, baclofen, drug tolerance, GABA, GSK3, lithium, mGluR5, Novartis, Roche, seizure

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.

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

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Current Research Grants • Drug Repurposing • Healx February 8, 2018July 26, 2018drug combinations, drug repurposing, FDA, FRAXA-DVI, Healx

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.

Fragile X Clinical Trial of AZD7325 in Adults

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • 2020 Grants • 2021 Grants • Biomarkers • Cincinnati Children's Hospital • Clinical • Current Research Grants • Erickson, Craig • Pending Results • Trials and Studies February 1, 2018March 10, 2021AstraZeneca, AZD7325, GABA, glutamate, NIH

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 Hospital

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • Agency for Science, Technology and Research (A*STAR) • Current Research Grants • Genetic Rescue • Pouladi, Mahmoud • Utami, Kagistia October 2, 2017April 26, 2021

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.