Types of CMT

Mito MTRFR/C12orf65

CMT is linked to single gene defect MTRFR

If you just graduated med school, you might know it as MTRFR. But if you’ve been in the game for a while, you probably know it as C12ORF65. Many patients diagnosed with this single gene defect experience ataxia, optic atrophy, peripheral neuropathy and shortened lifespan.

Maybe you’re a friend or family of a recently diagnosed patient, maybe you’re a researcher working on this gene or maybe you’re a parent who just received devastating news.

Whoever you are, you’re welcome here and we hope to help you understand more about our mission, our cause and what we are doing to change the outcome.

Mito Language

HNF Research Initiatives

FDA Repurpose Drugs

In September 2021, HNF partnered with Rarebase, a public benefit company that leverages cutting-edge technology (Function, a tech-enabled drug discovery platform) and biology using FDA-approved drugs to deliver accelerated, off-label treatments for CMT1A. HNF has completed Phase I of the project.

Novel Disease Modifying Drugs

University of Helsinki

The Battersby Lab receives support from HNF to gain a better understanding of the ….. and to develop an effective treatment approach for MTRFR or C12orf65 deficiency. Brendan Battersby, PhD is working closely with Jax Lab under the direction of Robert Burgess, PhD to develop a mouse model to test a gene therapy. The AAV9 therapy was developed by HNF in collaboration with Steven Gray, Phd. Rita Horvath, MD, PhD from Cambridge is the clinical advisor on the research team.

The goal is to develop an effective treatment approach for C12orf65 deficiency that could be extended to other human mitochondrial diseases, which affect an estimated one in 5000 people worldwide. This would mark a significant breakthrough in the hunt for treatments and cures for inherited mitochondrial diseases.

University of Miami

The Saporta CMT Stem Cell Laboratory is a state-of-the-art facility working to develop iPSc’s for MTRFR/C12orf65. These iPSc’s will support both the gene therapy and repurpose drug programs. 

Natural History Studies

CMT&Me App

A smartphone digital study sponsored by Pharnext Pharmaceuticals in collaboration with HNF, other CMT advocacy groups and experts in six countries to collect real-world anonymised data from adults (≥18 years) living with CMT. The aggregated data is available in close to real time, via dashboards and is analyzed based on pre-set criteria (ie. diseases stage, daily symptoms, age, demographics) to understand the real-world impact of CMT and the unmet needs of patients.

The Global Registry for Inherited Neuropathies (GRIN)

Developed in 2013 to stratify large groups of patients for all types of CMT to gain a deeper understanding of CMT. This important data also allows HNF to better identify the burden, diagnostic journey, and prevalence of CMT that will aid TRIAD research partners. Patient data = Improved Research & Clinical Trial Design.

If you don’t know your CMT type, you can find out from the HNF through The CMT Genie Program.


Faces of CMT

Learn more and please donate to the campaigns we support for this CMT Type, under our related “Faces of CMT” segment.

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Latest News and Related Blog Posts

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Cambridge-led natural history study identifies MTRFR/C12orf65 deficiency to improve diagnosis and therapy development

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...