Fragile X Research: 3 Areas of Focus
FRAXA Research Foundation is and always has been singularly focused on research to find effective treatments and ultimately a cure for Fragile X syndrome. Everything we do each day is centered on this mission. Our goal is to get treatments to families that will improve the lives of those we love affected by Fragile X.
We want to share our current research priorities and explain why we continue to need your support (research is expensive!).
Over the past 25 years, with review by our distinguished Scientific Advisory Board and strong governance by our Board of Directors, FRAXA has efficiently invested millions in basic and translational research. This work was stunningly successful in helping us understand the fundamental problems that cause symptoms in our loved ones.
We have now advanced the fight to a much higher level, and today we have a packed pipeline of potential Fragile X treatments. These available drugs, nutraceuticals, and investigational new compounds have shown promise, either alone or in combination in FRAXA-funded studies over the past two decades. It is exciting to have so many promising treatments which might help our loved ones who live each day with Fragile X. But what we don’t have is enough money to move them forward quickly through clinical trials.
FRAXA has identified many pathways, biomarkers, and phenotypes which are now targets for potential Fragile X treatments. Our plan now is to discover and assess potential treatments and ultimately validate them in clinical trials. Our research focuses on three areas:
Gene Therapy & Protein Replacement Studies
We continue to invest in technologies that could lead to a cure for Fragile X. FRAXA is funding efforts to fix Fragile X at the most basic level, by reactivating the silenced FMR1 gene. We’re funding groundbreaking studies using the latest technologies like CRISPR to restore the function of the Fragile X gene in boys and girls with the full mutation. For example, FRAXA investigator Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome. This research is showing promising results, but needs more work before it is ready for the clinic.
Targeted Translational Research
We are collaborating on key research projects to discover and assess new drugs and combinations that show promise in treating Fragile X. These candidates can then be advanced to clinical trials. This research targets gaps in our treatment delivery pipeline. With the knowledge we gained to identify treatment targets and pathways, our research continues to support labs that are working on promising ideas. We will also assess drugs that are in development for other disorders or that are already approved for other indications. Think of this research as “repositioning” and “repurposing.”
Repositioning Treatments in Development
There are many therapies and research strategies being studied that may work for Fragile X. For example, therapies being developed for diseases like Alzheimer’s could also target Fragile X. The distributed intelligence of our many pharma partners is expanding the pool of potential treatments. FRAXA-DVI is a great example of how we assess these possible therapies. We are also partnering with Tetra Discovery Partners to evaluate their Alzheimer’s compound for Fragile X.
Repurposing Available Medicines
We will also assess FDA-approved drugs currently being used to treat other conditions, such as diabetes, that could be repurposed to treat Fragile X. Our partnership with Healx is a great example of this research. Healx used advanced bioinformatics to identify promising therapies and is now searching for the best combinations of drugs and nutraceuticals. Through this research we have a growing list of potential drugs we want to move into Fragile X clinical trials.
Fragile X Clinical Trials
Clinical trials are the ultimate validation that a therapy is safe and effective for use in humans. We are funding Fragile X clinical trials to accelerate the development of drugs currently being tested, and that are viewed most promising to treat Fragile X. Our Targeted Translational Research has identified several other promising candidates that we would like to move into trials. Without FRAXA these trials will not be funded.
FRAXA is using a “micro trial” model for efficiently funding clinical trials. Our strategy is to fund smaller trials that are using objective measures. For example Dr. Craig Erickson is testing an investigational new compound, AZD7325, which selectively boosts GABA(A). This initial trial uses a number of innovative biomarkers, such as electroencephalography (EEG), which we hope will be useful outcome measures for future trials.
We also have a growing list of available drugs that have shown promise in preclinical testing, but are still waiting for clinical trials. Because these drugs are already on the market, few companies have any motivation to fund trials. While trials designed to obtain FDA approval for new drugs or new indications are very expensive, trials of available drugs in Fragile X can be done on a smaller scale by clinical researchers for far less money. This is a great value, but the costs must be borne primarily by the Fragile X community.
We are tackling the mission from many angles, funding more Fragile X clinical trials, persuading pharmaceutical partners to take on some of the burden, and refining testing strategies and measures to make studies more efficient. But research is expensive so we need your continued support.
We won’t stop until families affected by Fragile X see results. Your investment in FRAXA Research Foundation keeps the momentum going!