FRAXA Progress and Future Plans

It’s official: Fragile X is now the hottest research topic in all of neuroscience!

by Michael Tranfaglia, MD

FRAXA Medical Director and Co-Founder

Just last month, massive publicity attended the publication of Fragile X clinical trial results and major papers by FRAXA’s outstanding translational researchers. Even as news of the first round of Fragile X clinical trials is emerging, Phase III trials (which can lead to actual marketing of medications) are under way and slated to finish around the end of the year. This is exciting, and it is just the tip of the iceberg.

Thanks to your support, FRAXA has developed an entire pipeline of disease-modifying treatments for Fragile X. We started years ago by funding basic research to understand the cause of Fragile X; we then recruited dozens of the world’s finest neuroscientists to look for ways to fix the underlying problems. Many promising treatment strategies have emerged. Some are existing medications that no one imagined would have significant effects in Fragile X, and others are investigational drugs now in development by pharmaceutical companies around the world. Current clinical trials are testing three investigational drugs and a handful of available drugs in children and adults with Fragile X.

Each success leads to even greater interest from scientists and pharmaceutical companies around the world. FRAXA once had to recruit neuroscientists to our field (which had been the almost exclusive domain of geneticists); now, everyone in neuroscience knows about Fragile X, and we get far more top-quality research proposals every year than we can fund! Once we worked hard to build relationships with pharmaceutical companies, and we had to fund a lot of the preclinical research to convince them that Fragile X was worth their investment. Now pharmaceutical companies call us out of the blue, excited by recent progress and eager to develop their drugs for Fragile X!

We’re not done yet. When the first medications specifically designed to treat Fragile X become available in the next couple of years, we’ll need to figure out the best ways to use them. No single medication is right for everyone, so we are expanding the number of different drug classes in development, as well as the number of medications in each class. FRAXA is already studying how combination treatments can yield the best effects, and how we might be able to use blood tests (“biomarkers”) to figure out which medication would work best for any particular individual.

Thank you so much for helping to get us to this point! Please help us continue to fund the most promising research with your donation.