How Close are We to a Cure for Fragile X?
I would say to families, not to lose hope because I think we are in a position now to make a real difference to the lives of patients and the lives of families.
Jeannie Lee, MD, PhD
FRAXA Investigator
Harvard Medical School
Massachusetts General Hospital
What will a cure for Fragile X look like? Will it be a daily pill, a weekly protein injection, or a one-time gene therapy infusion? Will it be combinations of medicines, tailored to each individual?
The answer is probably all of the above. The cure for Fragile X isn’t a pipe dream. It’s a process, and we are right in the thick of it.
FRAXA Research Foundation is working tirelessly to deliver effective treatments and ultimately a cure for Fragile X syndrome to those we love who are affected by Fragile X. Everything we do each day centers on this mission.
Engineering Solutions for Fragile X
What FRAXA does goes far beyond what most people think of as “research.” Over the past 30 years, guided by our distinguished Scientific Advisory Board and Board of Directors, FRAXA has efficiently invested millions of dollars in translational and clinical research. This work has been stunningly successful in helping us understand the fundamental problems that cause symptoms in our loved ones. We are close to delivering solutions to change lives.
Medications for Fragile X
We are collaborating with over 30 pharma partners to discover and assess new and existing drugs that show promise for Fragile X. In Santiago, Chile, Dr. Patricia Cogram and her team at the FRAXA Drug Validation Initiative (FRAXA-DVI) are testing potential treatments in Fragile X mice, singly and in combination, using state-of-the-art methods to detect truly synergistic effects. FRAXA-DVI is an essential resource that we offer to companies to assess their drugs in Fragile X animal models, providing the preclinical validation required to move the best candidates forward to clinical trials.
We assess both investigational new drugs and FDA-approved medications in use for other conditions, such as diabetes, that could be repurposed to treat Fragile X. We and our pharma partners have a growing list of promising potential treatments that are ready for Fragile X clinical trials.
Gene Therapy & Protein Replacement Strategies
We are working to cure Fragile X. FRAXA is funding groundbreaking studies using the latest technologies like CRISPR to restore the function of the Fragile X gene in affected individuals. Thanks to donors like you, at this very moment in Boston, Massachusetts, Harvard scientist Dr. Jeannie Lee and her colleagues are developing a Fragile X gene reactivation approach using a small molecule cocktail. At the UMass Chan Medical School in Worcester, Massachusetts, Dr. Joel Richter and his colleagues have made a surprise discovery that redefines Fragile X syndrome and points to antisense oligonucleotides (ASOs) to reverse the disorder.
We are confident that these and other strategies will soon be ready for trials. And when they are, we will be ready, with advanced clinical trial methods that have been proven to be the best possible.
Fragile X Clinical Trials
Clinical trials are the ultimate validation that a therapy is safe and effective. The Fragile X field has had challenges with clinical trials (as is true for all fields of brain research), so we are developing new methods and measures to assess treatments quickly and efficiently, using fewer subjects. For example, because of donors like you, Dr. Craig Erickson and colleagues are adapting electroencephalography (EEG) tests for home use – a tool which would drastically reduce the burden of trials on families.
FRAXA uses a “pilot trial” model to use limited funds as efficiently as possible. One example is the successful phase 2 trial of Zatolmilast which led directly to the large phase 3 trials now in progress across the US.
Research Updates
BK Channel Openers: A New Hope for Fragile X Treatment – Insights from Kaerus Bioscience CEO Robert Ring
Kaerus Bioscience’s BK channel openers for Fragile X syndrome are advancing through Phase 1 trials, offering hope for new treatments with FRAXA’s continued support.
Read More »
Investigating the Role of the Insulin Degrading Enzyme (IDE) in Fragile X Syndrome
FRAXA Research Foundation awards a $100,000 grant to Ludwig Maximilian University researchers to investigate the role of insulin-degrading enzyme (IDE) in Fragile X syndrome, exploring new therapeutic approaches for cognitive and metabolic challenges in FXS.
Read More »Scaling Up: Managing a Packed Pipeline of Fragile X Treatments
We are running a massive engineering project, constantly troubleshooting a complex array of projects and making adjustments. Although this is a daunting task, we have validated dozens of potential therapeutic strategies. We have advanced the fight to a much higher level, and today we have a packed pipeline of potential Fragile X treatments ready for clinical trials. These available drugs, dietary supplements, and investigational new compounds have shown promise, either alone or in combination, in FRAXA-funded studies over the past decades.
It is exciting to have so many promising treatments which might help our loved ones who struggle each day with Fragile X. What we don’t have is enough money to move them forward quickly through clinical trials.
You Can Help Launch the Next Phase of Fragile X Research
What FRAXA does is unique and essential to solving Fragile X. FRAXA-funded investigators are hard at work at this very moment because of donors like you. Let’s keep them moving forward. With your support, we can complete the next phase of Fragile X research and deliver life-changing treatments to families, all while paving the way for a cure.
