Repurposing a Cancer Drug to Treat a Rare Disease

Principal Investigator: Dr. James Dowling and Dr. Carsten Bönnemann

Disease: Myotubular Myopathy

Research Description: X-linked myotubular myopathy (MTM) is a rare disorder that affects males and is caused by mutations in the MTM1 gene. It is one of the most severe neuromuscular diseases, with 1/4 to 1/3 of patients dying in the first year of life. The affected survivors have significant physical impairments and typically die before reaching adulthood.  Currently, there are no cures or even disease-modifying therapies for this devastating disorder. The research team has discovered that the anti-cancer drug tamoxifen promotes a significant reduction of MTM symptoms in mice.  The researchers will conduct a clinical trial to test the ability of repurposed tamoxifen to improve motor function in individuals with MTM. The trial will include 5 patients at the Hospital for Sick Children, and 5 patients at National Institutes of Health. This research will be supported through a collaborative funding effort between Cures Within Reach and the Canadian Institutes of Health Research, designed to fund proof of concept repurposing clinical trials in rare diseases and to promote collaboration between U.S. and Canadian research institutions.

Funding Partners: Anonymous

CWR funding role: Participating funder