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.
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.
www.cmtgenie.orgFaces of CMT
Learn more on this topic
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