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
Rarebase
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.
www.cmtgenie.orgLearn more on this topic
Latest News and Related Blog Posts
2024 CMT Roadshow Coming to a City Near You?
Do you want to make a difference in CMT research? HNF is looking for patients with a confirmed CMT diagnosis to participate in the CMT Biobank
Can Existing Drugs Treat CMT?
HNF, in partnership with Rarebase, is leading the charge in the first-ever research initiative to tackle multiple types of CMT in one project using its tech-enabled drug discovery platform called “Function.”
Calling all Grandparents (and Parents)!
Join Iris Adler as she continues fundraising for her grandson and the many others living with Charcot-Marie-Tooth Type 2A
January 27, 2017 – Bridge/Brunch Fundraiser
Charity Card Party Brunch and Boutique
Please join us January 27, 2017 at 10:00 at the Broken Sound Country Club, Boca Raton Florida. Join us for an exquisite brunch and card party to benefit the H.E.L.P fund/HNF at Broken Sound Country Club in Boca Raton, FL.
Save the Date: Friday January 29, 2016 Boca Raton, Florida to Benefit CMT Type 2
Charity Card Party Brunch and Boutique Please join us January 29, 2016 at 10:30 at Broken Sound Country Club, Boca Raton Florida. Join Board Members Iris and Nat Adler for an exquisite brunch and card party to benefit the H.E.L.P fund/HNF at Broken Sound...
Grace’s Courage Crusade Brunch by the Beach 2014
Grace’s Courage Crusade, a passionate campaign of the Sidoti/Caldarone family to raise awareness and fund CMT research, held its annual “Brunch by the Beach” fundraiser in scenic Newport, RI on November 2, 2014.
Grace’s Courage Crusade Brunch 2013
A bright, crisp day greeted supporters of Grace’s Courage Crusade as they gathered to enjoy brunch by the beach with breathtaking views at the Atlantic Beach Club in Newport, RI. Following the amazing buffet spread, the crowd got intense over a dessert auction that offered tempting sweets and goodies provided by local businesses.