How Close are We to a Cure for Fragile X?

The Fragile X field has had challenges with clinical trials (as is true for all fields of brain research), and so we are developing new methods and measures to assess treatments quickly and efficiently, using fewer subjects. For example, because of donors like you, at this very moment at Boston Children’s Hospital, FRAXA Investigator Dr. Carol Wilkinson is evaluating a child’s thinking, skills, and communication by measuring brain activity with non-invasive electroencephalography (EEG), instead of relying on subjective interviews.

It looks increasingly likely that combinations of conventional drugs will be required to obtain useful therapeutic effects in Fragile X. As we have learned more about the functions of the missing protein (FMRP), we have found that it does so many different things in the brain that it is unrealistic to expect any one small molecule to fix everything.

Because of donors like you, in Cambridge, England, supercomputers at Healx harnessed Artificial Intelligence (AI) techniques to data-crunch millions of combinations of medicines and supplements available today at your local drug store. In Santiago, Chile, Dr. Patricia Cogram and her team at the FRAXA Drug Validation Initiative (DVI) are testing the best combinations (from that long list of validated candidates!) in mice, using new methods to detect truly synergistic effects. We are now planning clinical trials of the best combinations, using the most advanced trial methods.

This project was made possible by $80,000 in contract research grants from FRAXA to Healx, which led to $56 Million in additional private financing, enabling Healx to dramatically expand this project and fund clinical trials.

At the same time, we are pursuing definitive treatment for Fragile X [a cure]. We are funding major projects studying gene therapy, gene repair, gene reactivation, and protein replacement. For example, thanks to donors like you, at this very moment in Boston, Massachusetts, Harvard scientists Dr. Jeannie Lee and Dr. Hungoo Lee are fine-tuning a Fragile X gene reactivation approach using a small molecule cocktail. We are confident that this and other strategies will eventually be ready for the clinic. And when they are, we will be ready, with clinical trial methods that have been tested and proven to be the best possible.