A rare axonal hereditary motor and sensory neuropathy which presents with a series of diseases that cause blindness and cognitive impairment. MTRFR/ C12orf65 may result in CMT6, Leigh Syndrome, Spastic Paraplegia-55, Behr Syndrome and COXPD.
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.
Mitochondria are the powerhouses of our cells. Think of them as our body’s batteries. Mitochondrial disease causes these batteries to run low.
Cambridge-led natural history study identifies MTRFR/C12orf65 deficiency to improve diagnosis and therapy development
This research will potentially show a method that may be quicker and better at identifying baseline disease phenotypes to support research and clinical trials. Cambridge-led retrospective natural history study funded by the Hereditary Neuropathy Foundation identifies...
We have two choices in this world. We can sit back and do nothing, allowing this disease to happen, or we can go out and fight to make a difference.
Thank you to everyone who attended this fun event with music, shoes, and plenty of shotguns, for Jaxson’s Cure.
Battersby Lab Donor Story Fighter Moms Donate to Vital Research into Mitochondrial Diseases
Meet Bosco, Zach Houliares service dog. Learn more about how service dogs can help those living with CMT!
Jaxson’s Clay Shoot 2021 Image gallery
Thank you to everyone who attended this family-friendly event with costumes. Check out the photo gallery!
C12orf65 gene, a rare form of CMT also known as Leigh Syndrome is robbing young children of a normal life even beyond the classic CMT symptoms.
C12orf65 can present as two different types of diseases called CMT6 and Leigh’s Syndrome. Both diseases are caused by dysfunction of mitochondria, the energy factory of our cells, and are progressive and, many times, devastating.