I wanted to share the latest update on the MEPAN drug repurposing effort underway at the University of San Francisco that Ethan Perlstein of Perlara recently posted in his newsletter on Substack.
It describes how the project came together and includes a science-y overview of the progress to date. To sum: after two years of pandemic-interrupted work, the team found some FDA-approved drugs that seem to improve function in at least two of the yeast models of MEPAN. Though it is a big jump from yeast to humans, we are hopeful that the project's next step - testing the drugs in MEPAN patient skin cells - will yield similar findings. It may be possible to then test these drugs in trials with MEPAN patients.
None of this amazing progress would be possible without Ethan Perlstein and Perlara, who is helping rare disease families around the world to forge their own path towards finding treatments for their kids. I also want to acknowledge the engagement of a MEPAN research community that has continued to devote time, resources and invaluable knowledge that is helping to advance this project and the understanding of MEPAN. I especially want to thank:
Drs. Alex Kastaniotis and Kaija Autio, whose research in MECR models in yeast and mice at the University of Oulu in Finland helped lay the scientific foundation for this project. Alex's group published many of the scientific papers that form the backbone for understanding mitochondrial fatty acid synthesis and the MECR gene.
Dr. Gali Heimer, the researcher and clinician at Sheba Medical Center in Israel that is caring for a number of MEPAN patients. She has championed the pursuit of finding treatments for patients and also made introductions that may pave the way for a gene therapy treatment for MEPAN.
Drs. Hugo Bellen and Debdeep Dutta at Baylor University in the U.S. The Bellen Lab has built a MEPAN disease model in flies and done experiments that show how certain drugs might help patients with MEPAN. They may explore additional work that could help advance the UCSF/Perlara yeast repurposing project as well.
There are many other researchers that have helped along the way - we will highlight more of them in future posts.