Which of the available drugs are best for fragile X? We tend to think of drugs according to their primary activity in the body, but very few drugs are totally selective and specific. There are differences between drugs in any given class, and these differences may be critical. Most drugs have “off-target” effects which are usually considered side effects, and it is these side effects which can have key advantages, in some cases.
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fNIRS to Measure Treatment Response in Young Children with Fragile X
FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.
Read moreTargeting 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.
Read moreHealx Raises $56M to use AI to Find Treatments for Fragile X & Other Rare Diseases
Healx has secured $56M in new financing to build a clinical-stage portfolio for rare diseases, including treatments for Fragile X syndrome, and to launch a global Rare Treatment Accelerator program. Where the traditional drug discovery model takes more than a decade and can run into the billions of dollars, Healx’s AI-driven approach makes the process faster, more efficient and cost-effective.
Read moreDeep Molecular Profiling of Fragile X Mouse and Human Cells
FRAXA Research Foundation has awarded $90,000 to Dr. Joel Richter, Principal Investigator, and Dr. Sneha Shah, Postdoctoral Fellow, at the University of Massachusetts Medical School. They are using human induced pluripotent stem (iPS) cells to analyze gene expression in Fragile X syndrome.
Read moreTargeting 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.
Read moreCorrecting 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.
Read moreGene Therapy Translational Studies for Fragile X Syndrome
With this $90,000 award from FRAXA Research Foundation, Drs. Ernest Pedapati, Christina Gross, and student Lindsay Beasley will pursue preclinical gene therapy approaches using AAV (adeno-associated virus) vectors for treating Fragile X syndrome at Cincinnati Children’s Hospital. Dr. Craig Erickson elaborates about this in this video.
Read moreClinical 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.
Read moreDevelopmental 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.
Read moreReintroducing 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.
Read moreEnhancing 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.
Read moreScreening 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.
Read moreNovel 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.
Read moreCoffee, 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.
Read moreFinding 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.
Read moreResearch 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.
Read moreMetformin 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 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 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 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 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.
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