Types of CMT

Sorbitol Dehydrogenase Deficiency (SORD) – Type 2 CMT

Newly discovered gene affecting 1 in 100,000 individuals

SORD is a genetic metabolic disease resulting in CMT neuropathy. SORD Deficiency patients are missing a key enzyme needed to metabolize a sugar called sorbitol. It’s progressive and debilitating affecting the peripheral nerves and motor neurons resulting in loss of sensory and decreased mobility.

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

Applied Therapeutics (AT)

A clinical-stage biopharmaceutical company partnered with HNF in 2020 to support the development of AT-007.  AT is conducting the INSPIRE international phase III randomized interventional trial for SORD deficiency. This trial is designed to investigate the ability of AT-007 versus placebo to reduce toxic sorbitol levels and to evaluate the effect of AT-007 on improving disease symptoms over a longer period. HNF has been instrumental in helping to facilitate and accelerate the approval of their clinical lead product AT-007, an Aldose Reductase Inhibitor (ARI) currently in clinical trials. 

University of Miami

To support the development of therapies for SORD deficiency, HNF developed and owns a SORD deficiency rat model in collaboration with Stephen Züchner, MD, Phd at University of Miami.

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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