Drug Repurposing for Rare Disease and the Future of Health – The Genetics Podcast

In this double-bill episode of The Genetics Podcast, Dr. Patrick Short talks to two key rare disease researchers in the field: Dr. Bruce Bloom, CCO of Healx, and Dr. Mike Tranfaglia, CSO of FRAXA. Both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing to aid in finding effective treatments for Fragile X.

FRAXA has given a lot of attention to drug repurposing: finding available drugs that are useful in Fragile X syndrome. For several years now we have been engaged in a partnership with Healx with the goal of discovering available drugs, and combinations of drugs, to target Fragile X syndrome.

Some available drugs show clear signs of effectiveness. Many individuals with the syndrome are treated with psychiatric drugs, such as SSRIs to manage anxiety or stimulants to reduce attention deficits. Other drugs are not obvious candidates. Neither metformin nor minocycline are known as drugs that modify behavior or cognition, and yet they appear to have very positive effects. However, so far, no one small molecule has been found which can treat Fragile X, and so when we’ve gone to clinical trials, effects have been underwhelming.

The challenge now is to find intelligent combinations which have synergistic effects. Repurposed drugs and combinations of these are ready for the clinic now. With so many potential combinations to consider; where do we start? One of FRAXA’s next priorities is to organize clinical trials of the best combinations using the latest insights and methods.

Featured Guests on EP 28 of The Genetics Podcast

Dr. Bruce Bloom was the founder of Cures Within Reach, a US-based global non-profit driving “new” treatments to patients through repurposing research that clinically tests drugs and other therapies already approved for one disease to help with a different disease. Dr. Bloom continues to be a strong global proponent of drug, device and nutraceutical repurposing as a critical component of therapy development in his current role as Chief Collaboration Officer at Healx.

Dr. Michael Tranfaglia is Chief Scientific Officer of FRAXA, coordinating the Foundation’s research strategy and working with university and industry scientists to develop new therapeutic agents for Fragile X, autism, and related developmental disorders. As a practicing psychiatrist, he had specialized in the treatment of Anxiety Disorders prior to his son’s Fragile X diagnosis in 1992 and before co-founding FRAXA in 1994. He most recently shared his favorite combination of available drugs.

Dr. Bruce Bloom

Dr. Bruce Bloom

Michael Tranfaglia, MD

Dr. Michael Tranfaglia

Explore Current Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.