Only about 5% of rare diseases have an effective treatment. Among the other 95% is fragile X syndrome, a genetic disorder and leading cause of autism. The search for a cure has been at turns both frustrating and hopeful, but overall an excruciatingly slow process. 

“We’ve put millions of dollars into research,” said Dave Bjork, director of community relations for the FRAXA Research Foundation, which was started in 1993 by two parents whose three-year-old had the inherited disorder. “We really felt like we needed to change the paradigm.”

Hoping to do just that is UK-based tech company Healx, which specializes in leveraging artificial intelligence to repurpose older drugs. In the process, some say it has also provided a model for how companies should be working with patient groups.

“There’s never been a more exciting time for these patients because of AI and machine learning,” said Tim Guillams, Healx CEO and co-founder. “You can get treatment opportunities that most rare diseases didn’t have in the past. More importantly, patients and families are really being empowered.”

He and Bjork recounted their collaboration during a panel at Biotech Showcase, an event which took place on the sidelines of the J.P. Morgan Healthcare Conference this past month. Guillams said he was first approached by FRAXA in 2016 about using its AI to predict treatments for the disease. Healx uses a computational platform to determine which molecules that already exist can be targeted to rare diseases. 

Its fragile X work focused on monotherapy as well as drug combinations – which presents a particularly vexing problem in drug discovery because vetting a combination of just two or three drugs requires testing billions of possibilities. That work yielded five viable combinations; the company’s fragile X treatments are poised to enter Phase 2 trials by this March, Guillams said. 

“This is really the power of AI, of the right partnerships and of a super-engaged and driven community,” he said. “And that’s why patient groups and advocacy are essential. This is really a game-changer for the rare-disease community.” 

Because of this, Healx has been able to secure more funding. The firm announced a $56 million funding round in October, 10 months after raising $10 million. Based on the success of its FRAXA partnership, it’s now scaling up the model and working with other patient groups

The healthcare system is starting to utilize AI to a greater extent, mostly for guiding clinical trials, but drug discovery remains one of AI’s biggest gaps. It normally takes about a decade and a billion dollars, give or take, to develop a new drug from the ground up. Healx’s model, developed with FRAXA, may shrink that timeline. 

“The whole concept of trying to start from scratch and build out a new molecule, where it’s going to take maybe $3 or $4 billion, to hit a patient population that’s only about 300 or 400 patients, is something that has to be disrupted,” said Ranjeet Alexis, investment director, Intel Capital, which was part of Healx’s latest funding round. 

The Healx-FRAXA collaboration not only shows how AI and machine learning can disrupt a space that has been challenging in the past. It’s also a “wonderful archetype for how biotechs and advocacy groups should be working together,” said John Reynders, VP, data sciences, genomics and bioinformatics at Alexion Pharmaceuticals, who moderated the panel. 

Now, Guillam said, he’s working with a patient group on every one of his firm’s research projects. He said he hopes to see the first AI-predicted therapies hit the market by 2025 – and with the time lags shrinking, possibly sooner. “AI and machine learning are really this kind of driving force for improvement of quality of life for those patients and families,” he said. “It’s happening right now.”

That’s especially meaningful for parents like FRAXA’s founders, Katie Clapp and Mike Tranfaglia, whose son just turned 30. 

“They had all of these years of trying,” said Bjork. “I think some of these things will just take a million years. Now in this short period of time, to have some other promising things happening, it’s exciting for the community and certainly for FRAXA.”