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
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.
Read moreSpectrum News – Newly Discovered Aspects of Fragile X Spur Next Wave of Drugs
Many drugs for Fragile X syndrome have failed in large clinical trials, but candidates that target new aspects of the condition may fare better.
Read moreNKCC1 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.
Read moreNon-Invasive Imaging as a Biomarker for Fragile X Clinical Trials
FRAXA Research Foundation has renewed Kamila Castro’s 2017 FRAXA Fellowship for a second year. With this $90,000 award, Kamila Castro and Principal Investigator Dr. Andreas Frick are using non-invasive magnetic resonance imaging (MRI) methodology to assess connectivity changes in the brain in Fragile X. If this project is successful, we will have objective outcome measures to evaluate new treatments, both in mice bred to mimic Fragile X and in human patients.
Read moreMega Green Tea Extract to Treat Fragile X?
Green tea is thought to have many benefits, particularly in cognitive function. In 2012-14, FRAXA Research Foundation funded a clinical trial to assess the effects of EGCG (green tea extract) on cognitive function in adults with FXS. Drs. Rafael de la Torre and Mara Dierssen Sotos, principal researchers in Barcelona, Spain, reported memory, attention, and mental flexibility improvements.
Read moreHow Promising is CRISPR for Fragile X?
Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School, was awarded a FRAXA Research Grant for gene reactivation with the use of CRISPR. In this interview he tells us about CRISPR in Fragile X research, how realistic is it that it could turn the Fragile X gene back on, and if it can really cure Fragile X.
Read moreFragile X Research Impacted by a Small Group of Thoughtful, Committed Citizens
Theirs was an effort by a small group of thoughtful, committed members of the Fragile X Association of Michigan (FXAM) to be sure. The entire project took months! But it was hard work well worth the effort. After writing and revising (and revising), FXAM was awarded a $35,000 grant which the Michigan Fragile X group will now direct to Dr. Todd’s ongoing Fragile X research involving CRISPR!
Read moreActivity-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.
Read moreTetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome
This 2-Period Crossover Study of BPN14770 is accepting adults males with Fragile X syndrome at Rush University Medical Center in Chicago. Principal Investigator of the study is Elizabeth Berry-Kravis, MD, PhD.
A selective inhibitor of the phosphodiesterase type-4D (PDE4D), BPN14770 has shown the ability to improve the quality of connections between neurons and to improve multiple behavioral outcomes in the Fragile X mouse model.
Aripiprazole as a Treatment for Fragile X Syndrome
Many medications are used to help people with Fragile X cope. But few clinical trials have been done on these drugs. Years ago FRAXA funded Dr. Craig Erickson to run a trial of aripiprazole (aka Abilify). FRAXA guest writer Hannah Miles recently caught up with Dr. Erickson to learn the results of the trial.
Read moreUnderstanding 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.
Read moreThree-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.
Read morePharmacological 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.
Read moreLysogene Partners with FRAXA Investigator Dr. Hervé Moine to Develop Gene Therapy for Fragile X
A research project funded by FRAXA has led to new fragile x gene therapy initiative, this time in France. Lysogene, a French biopharmaceutical company working to develop gene therapy treatments for brain disorders, is partnering with FRAXA Investigator Dr. Herve Moine to tackle Fragile X syndrome.
Read moreFRAXA Funded Researchers Present at MA Fragile X Conference
On Saturday Boston Children’s Hospital (BCH) hosted a Fragile X educational conference. Success Strategies for Individuals and Families Impacted by Fragile X and two of our funded researchers, Dr. Craig Erickson, and Carol Wilkinson, MD, PhD, presented giving an update on their current Fragile X clinical trials. Both being funded by FRAXA.
Read moreFRAXA Research Grants Drive Big Investments in Fragile X
Most people know that FRAXA supports academic research at many institutions such as Harvard University, University of Pennsylvania, Massachusetts Institute of Technology, and Yale University. However, FRAXA is also working with more than 30 pharmaceutical companies around the world. Mike spends a lot of his time advising and collaborating with industry partners.
Read moreCan CRISPR Cure Fragile X Syndrome?
CRISPR/Cas9 was used by MIT researchers to remove the molecular tags that keep the mutant gene shut off in Fragile X syndrome neurons and resulted in some of them producing protein normally. Much work is being done right now, with exciting new discoveries coming at a fast and furious pace.
Read moreImpact of the Fragile X Community
At FRAXA Research Foundation, we are truly grateful for our Fragile X community and thousands of donors. We couldn’t keep moving the ball forward in research without your support. Each year FRAXA invests over $1 million in Fragile X research thanks to your support. Because we supported these three researchers, we were able to secure another $35 million in research aimed at identifying clinical trial outcome measures that will lead to human trials of promising treatments for those affected by Fragile X.
Read moreFragile 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.
Read moreCRISPR Reactivation of the Fragile X Gene
“We are trying to target the first event that goes wrong in Fragile X syndrome”, says Todd, “One reason our previous attempts to develop treatments for Fragile X syndrome have failed is that they’ve tried to target the downstream effects of losing the Fragile X protein. The protein does many things… bypassing all the functions that it normally takes care of has proven difficult from a pharmacologic perspective.”
Read moreNewly Discovered Regulatory Pathways in Fragile X
Studies at Yale University and elsewhere are showing that FMRP plays a significant role in the regulation of potassium channels. Looking forward, potassium channel opener drugs could rescue some symptoms of Fragile X in humans.
Read moreIn Their Own Words: Reports From the International Fragile X Workshop
The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words, with brief updates from researchers investigating Fragile X.
Read moreBrain Imbalance Target of Dr. Erickson’s New Clinical Trial
According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X.
Read moreCombinatorial 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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