MTRFR-C12orf65

Current Research

University of Cambridge, Rita Horvath, MD, PhD, Director of Clinical Neurosciences is enrolling the patients, including Jaxson, in the MTRFR/C12orf65 natural history study. Dr. Horvath is an expert in mitochondrial diseases and has developed an impressive model for collecting, curating, and analyzing patient data for publication. We have learned so much about MTRFR/C12orf65. What was believed to be a Charcot-Marie-Tooth with Leigh Syndrome is now classified to include symptoms related to Spastic Paraplegia and Ataxia, making the disease even more devasting. This is very important information as we continue to learn more about the disease and prepare for clinical trials. 

University of Helsinki Institute of Biotechnology, Brendan Battersby, PhD continues to gain more insight on MTRFR/C12orf65 in specific models he developed and to test potential biological (drugs) as therapeutic approaches to treat disease. He works closely with Robert Burgess, PhD at Jackson’s Lab, a premiere mouse facility. The development of the mouse has been extremely difficult, but both scientists are optimistic that with new findings in the Battersby Lab that they will have success with a viable mouse by later this year. This is also essential to test the gene therapy virus designed at UNC, Chapel Hill, by Steven Gray, Phd, who now is at UT Southwestern.

University of Miami, Mario Saporta, MD, Phd continues to fight for us by developing an iPSC model for MTRFR/C12orf65. Like the mouse, it’s been very difficult. He refuses to give up and is attempting one more approach to see if this model could be useful for testing therapeutics. 

Early this year, we partnered with Rarebase, a public benefit company that leverages cutting-edge technology (Function, a tech-enabled drug discovery platform) and biology using repurposed FDA-approved drugs to deliver accelerated, off-label treatments for various types of rare diseases, including MTRFR/C12orf65. Rarebase has completed the discovery phase and is entering preclinical validation of the drug candidates identified for several subtypes of CMT, including MTRFR/C12orf65.  They have found drug candidates to test in a model of MTRFR/C12orf65. Learn more about Rarebase here.