2025 FRAXA Annual Appeal
A Letter to Our Fragile X Community
We are writing to you today to ask for your help.
For more than 30 years, FRAXA has pursued one goal: effective treatments and a cure for Fragile X syndrome. Thanks to your generosity, that goal feels closer than ever before.
Because of you, scientists we once funded as young trainees are now leading world-class labs. Discoveries that emerged from FRAXA grants have grown into large-scale clinical trials and industry partnerships. Every dollar you give is multiplied many times over — and every year, the pace of discovery accelerates.
In the coming months, results from major clinical trials will reveal whether the first treatment for Fragile X is ready for FDA review. At the same time, FRAXA-funded teams are pursuing bold new strategies that go beyond treating symptoms — aiming instead to correct the root cause of Fragile X itself.
Three Stories. One Mission: A Cure for Fragile X
The PDE Story, which began when early FRAXA funding helped launch a drug now in Phase 3 trials.
The BK Story, which started with FRAXA grants to university labs and is now advancing to human testing.
The ASO Story, in which a discovery supported by FRAXA launched a biotech-driven push toward a cure.
Each story shows what’s possible when you give, how your generosity can ripple outward into real hope for families around the world.
We’re deeply grateful to you for getting us this far. The next chapters depend on all of us.
Please make a gift today to keep this momentum going. You can power the discoveries that will change lives.
Katie Clapp
President and Co-Founder
Michael Tranfaglia, MD
Medical Director and Co-Founder
Be a part of what's next!
Your gift today fuels the discoveries that bring us closer to a cure for Fragile X syndrome.
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FRAXA was created by Fragile X families, and I believe this sets them apart from other nonprofits.
They directly see how this disorder affects loved ones and have it made it their mission to help find a cure. FRAXA gives me hope that there will be some type of cure in my son’s lifetime.
Lyndsay Prongay, mother of Michael
Accelerate Fragile X breakthroughs.
Help fund the next discovery.
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Calming the Brain: The BK Channel Breakthrough
Among the many promising Fragile X research paths FRAXA has supported, one stands out as especially compelling: the BK (Big Potassium) channel. When this channel falters, as it does in Fragile X, it drives hyperactivity and sensory overload.
FRAXA investigator Dr. Peter Vanderklish at Scripps demonstrated that BK channels are underexpressed in the Fragile X brain. FRAXA then funded teams in France (Drs. Sylvain Briault, Jacques Pichon) and elsewhere, that showed the potential of BK channel openers in Fragile X models. These studies were validated through FRAXA’s Drug Validation Initiative (FRAXA-DVI).
The results were clear: activating BK channels restored normal communication between brain cells. As a fringe benefit, this drug class also has potential to treat seizures.
Today, two different BK channel openers are headed into clinical trials!
Spinogenix is preparing to launch Phase 2 clinical trials of their BK channel opener, SPG601, in Fragile X.
After Kaerus Bioscience completed successful Phase 1 trials of their compound, KER-0193, Servier Pharmaceuticals licensed the rights to Kaerus’s Fragile X program in a deal valued up to $450 million. Servier plans to launch Phase 2 trials in the U.S. and Europe.
This evolution — from academic grants to biotech partnerships and multimillion-dollar licensing deals — is a powerful example of how you help FRAXA turn bold science into promising treatments.
FRAXA is an absolutely AMAZING organization!
They have helped countless FX families, like ours, worldwide. I am beyond grateful to FRAXA and their wonderful team for making a huge difference in our life and most of all giving us HOPE for a bright and meaningful future for our son.
Molly Johns, mother of Matthew
The PDE Story: Restoring Brain Communication
Today, the PDE4D inhibitor zatolmilast has completed large Phase 3 clinical trials across multiple sites, and we are eagerly awaiting results.
This work has placed PDE inhibitors at the center of Fragile X drug discovery, with teams now exploring PDE2, PDE4 variants, and combination therapies — and more companies preparing to launch clinical trials of their compounds.
The path to this point began with many FRAXA grants supporting early studies of PDE4 inhibitors in Fragile X mice. Those experiments showed striking benefits in learning and behavior and caught the attention of pharmaceutical partners eager to take the next step.
Building on that foundation, FRAXA organized a clinical trial of an advanced PDE4D inhibitor in collaboration with Tetra Discovery Partners and Dr. Elizabeth Berry-Kravis.
The results were striking: broad cognitive improvements, no major side effects, and no tolerance developing over time. Even better, some benefits persisted after treatment stopped, a rare sign that the drug may produce lasting changes.
Throughout this journey, FRAXA’s role went far beyond funding. The team connected experts across institutions, organized preclinical validation through its Drug Validation Initiative (FRAXA-DVI), and helped guide and refine subsequent Fragile X clinical trials.
Because of your support, FRAXA turned early discovery into real progress, and your gift today will help write the next success story.
Help Bring the First Fragile X Treatment to Families
Your gift powers the research behind PDE inhibitors now nearing FDA review.
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FRAXA’s commitment to Fragile X and research is unwavering.
Their work has been instrumental in identifying and advancing discoveries in the field. Their approach to collaboration has opened doors to many new potential opportunities, all to improve the lives of those impacted by Fragile X.
Andres Centellas, father of Gael
Be part of what’s next.
Your gift today fuels the discoveries that bring us closer to a cure for Fragile X syndrome.
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The ASO Story: Reawakening the Fragile X Gene
A FRAXA-funded discovery at UMass Chan Medical School has uncovered one of the most promising paths yet toward a true cure for Fragile X.
Dr. Joel Richter’s team discovered that in many individuals with Fragile X, the FMR1 gene isn’t completely silent; it produces a mis-spliced RNA that fails to make the necessary FMRP protein. With continued support from FRAXA, they designed antisense oligonucleotides (ASOs) that correct this error, restoring proper gene function in lab-grown neurons and organoids.
Recognizing the potential of this approach, QurAlis, a biotech company based in Cambridge, MA, licensed the Richter lab’s breakthrough and partnered with UMass to advance the ASO therapy toward human trials.
The work hasn’t stopped there. FRAXA is now helping realize this vision by funding Quiver Biosciences to optimize ASO therapy. Their team is using stem cell–derived neurons and advanced cellular platforms to test which ASOs best restore FMRP and reverse Fragile X.
From lab discovery to real-world progress, your support turns breakthroughs into hope for families living with Fragile X.