Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research
2016: 4 Countries - 10 Teams - $1 Millions
From finding new treatment targets, to pinpointing outcome measures for future clinical trials, to attempting to reactivate the gene which is silenced in Fragile X syndrome, these innovative scientists will bring us closer to a cure.
Improving Clinical Trials
Many parents of children with Fragile X know well the struggles of getting their children to sleep through the night. Mice and fruit flies engineered to mimic Fragile X Syndrome also have disrupted sleep. Drs. Westmark and Smith will test potential therapeutics in mice using sleep as an outcome measure and investigate whether sleep could be used as an outcome measure for future clinical trials.
The search is on for a simple blood test to measure how well a treatment works for an individual with Fragile X. Dr. Frank Kooy’s team investigates.
Testing Treatment Targets
One of the goals of FRAXA’s research program has been to find biological pathways affected in Fragile X that are amenable to treatment with small molecules (drugs). Past efforts have been successful, generating large numbers of treatment targets, and this year, Dr. Osterweil and Dr. Bardoni will study new promising targets.
All these treatment targets raise an important question: are these various neural pathways and targets related at some key point? Is there a critical node, a point where pathways connect, which would allow for the most effective treatment? Two projects funded last year are looking for just such critical nodes (see Vanderklish and Moine). Until a critical node is found, we may need combinations of drugs to best help people with Fragile X syndrome. Dr. Razak’s study of combination treatments aims to show us the best way forward and form the basis for success in clinical trials.
Reactivating the Fragile X Gene
The holy grail of Fragile X research is to reactivate the gene, FMR1, which is silenced in people who have the syndrome. Using genetic engineering, researchers can already switch on the gene in adult Fragile X mice, and correct symptoms in this way. Teams led by Dr. Peter Todd and Dr. Jeannie Lee will pursue gene reactivation in mice using the new technique, CRISPR.
Congratulations to the new grantees! The grand total of these awards is $1,022,000 over the next two years. Additional awards still to come!
FRAXA Drug Validation Initiative (FRAXA-DVI)
The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing to validate investigational and repurposed compounds for Fragile X.
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Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome
FRAXA funded the LovaMiX trial of lovastatin + minocycline for Fragile X. 2022 results show safety and support continued study of this dual-target treatment approach.
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Novel Modulators of Potassium Channels to Treat Fragile X
FRAXA-funded Yale research showed disrupted Kv3.1 and Slack potassium channels impair neuronal timing in Fragile X. Published findings support Kv3.1 as a treatment target.
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Research Points to Drugs which Inhibit PDE to Treat Fragile X
FRAXA-funded work identified PDE enzymes as key targets in Fragile X, showing that PDE inhibitors can fix signaling and boost synaptic function. PDE4D trials are underway.
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NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model
Dr. Anis Contractor and Dr. Qionger He investigated the potential of the available drug bumetanide to correct altered GABA signalling in a mouse model of Fragile X syndrome.
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Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X
FRAXA partnered with Healx to use AI to find approved drugs and drug combos that could treat Fragile X. Top candidates are now being tested in Fragile X models.
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Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers
University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, explored drug combinations to limit hypersensitivity to sounds in Fragile X mice.
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Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells
FRAXA funded Dr. Peter Todd to use CRISPR to reactivate FMR1. Published results confirmed restored gene expression, a big step toward disease-modifying therapy.
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Investigating Gene Reactivation to Treat Fragile X Syndrome
With a $180,000 grant from FRAXA Research Foundation, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.
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