Types of CMT

Mitofusin 2 (MFN2) – CMT2A

CMT is inherited in an autosomal dominant manner. CMT2A is caused by mutations in a gene called MFN2, which produces the protein mitofusin-2. It usually presents with an earlier onset (childhood) and may be more severe than common types of CMT. Some patients with the MFN2 gene have optic neuropathy, causing blindness.

HNF Research Initiatives

Novel Disease Modifying Drugs

Miralinc Pharmaceuticals

Founded with the initial support of the HNF to advance a next generation Histone deacetylase subtype 6 (HDAC6) for CMT2A patients. HDAC6 is a strong therapeutic target for CMT2A and other subtypes of CMT with preclinical validation from academic research in animal models. HNF has supported a decade of research in this class of drugs with TRIAD partners.

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 CMT2A. HNF has completed Phase I of the project.

Natural History Studies

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.

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.

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


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