HNF’s initial gene therapy work will focus on CMT type 6, which is caused by a recessive mutation in the C12orf65 gene and is currently no treatment.
Blog Category
Research
Total posts in Category: 95
A Bi-Directional, Translational Model of Resistance-Type Exercise Training in the Management of Charcot-Marie-Tooth (CMT) Disease
A team of government researchers, including Dr. Robert Chetlin, have collaborated with Dr. Michael Sereda and Dr. Klaus Nave of the Max Planck Institute for Experimental Medicine (MPI) to successfully secure the CMT1A transgenic rat from MPI and establish a colony in the United States.
A New Mouse Model for Charcot-Marie-Tooth (CMT2)
We were recently informed that The Jackson Laboratory (JAX, a nonprofit biomedical research institution headquartered in Bar Harbor, Maine) had taken delivery and will be distributing a newly generated CMT-related mouse model. The new model expresses mutant mitofusin 2, a mitochondrial membrane protein involved in mitochondrial fusion and regulation of vascular smooth muscle cell proliferation.
Hot Off the Press – Potential Treatment for CMT1A
Two recent publications from Pharnext describe a novel synergistic combination of 3 drugs (baclofen, naltrexone and sorbitol) and its effect on CMT1A both in the lab and in a phase II clinical trial. These 3 drugs already approved but for unrelated conditions, are combined at new optimal lower doses and under a new formulation. This novel potential therapeutic is called PXT-3003.
Support CMT Therapeutic Alliance
HNF has entered into a joint venture – the CMT Therapeutic Alliance – with a unique non profit organization (BioPontis Alliance for Rare Diseases) that brings professional drug discovery capabilities to translate our research results into potential treatments.
Sneak Peak of Fall Newsletter: CMT Research Study Survey
My name is Elizabeth Francisco and I am a graduate student from the Genetic Counseling program at the University of North Carolina Greensboro. I am inviting you to participate in a research study. The goal of my study is to learn more about the experiences of people with Charcot-Marie-Tooth (CMT) with genetic counseling and genetic testing. Adults with CMT and parents or legal guardians of someone of any age who has a diagnosis of CMT are eligible to participate
Building Awareness on CMT and Supporting the Patient Community – HNF Announces Support from Pharnext
HNFpharnext recently entered into a partnership with the French biopharmaceutical company, Pharnext, to help raise awareness of Charcot-Marie-Tooth (CMT) disease and support the CMT patient community through several initiatives. Building awareness is key! Pharnext’s support will assist HNF in distributing HNF’s CMT Update quarterly newsletter, enhancing the Global Registry for Inherited Neuropathies (GRIN), setting up activities for CMT September Awareness Month in the US and strengthening the CMT Inspire Community.
CMT Research Update: The Drug Discovery Process
Learn more about the process of drug discovery and bringing a drug to market.
Quality of Life and CMT Research
Did you know that 95% of clinical trials fail? There are multiple causes, most related to efficacy or safety, which obviously can be harmful and risky for patients. The risk-reward of enrolling in trials is a judgment call based on the devastating effects of disease related to quality of life (QoL) or life-threatening disease. With CMT, the risk-reward is more of a challenging question for many, as CMT in most cases is non-fatal.
Help us answer questions that your doctors and the CMT Research Community aren’t too sure about.
Did you know that you can become part of a community in therapy development and further research for all forms of CMT and inherited neuropathies? The mission of the Global Registry for Inherited neuropathies (GRIN) is to collect clinical and genetic information from patients with ALL forms of Charcot-Marie-Tooth (CMT) and other related rare and ultra rare inherited neuropathies.
Using Zebrafish to Search for Therapeutics for CMT2A
Research on CMT is global, and covers both laboratory and clinical studies. It is critically important to be aware of what is happening elsewhere as well as in the USA because it can have implications for what we do and fund at the HNF.
Hot off the press
It seems like almost weekly there is another new publication on CMT with interesting basic biology. While an earlier “Hot off the press” highlighted the work of Cherry and co-workers at the University of Texas Southwestern Medical Center who showed show that neurons lacking a gene for rab7 result in neuropathy.
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PFDD Meeting 28SEP2018 (5)
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Breathing (3)
Canine Companions (5)
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Research (95)
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Bike New York (19)
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TCS New York City Marathon (7)
Team CMT Members (61)
The CMT Genie (6)
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TRIAD – Research Gifts (0)
University of Helsinki (2)
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Burke Insitute (3)
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