The latest from HNF: research updates, patient stories, advocacy wins, events, and CMT community news.
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May 27, 2015
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.
March 9, 2015
Autosomal recessive demyelinating CMT4 patients present with earlyonset and slowly progressing symptoms. These include progressive distally accentuated weakness and atrophy of muscles in the lower limbs. In addition, patients may have weakness and atrophy of hands, sensory loss and pes cavus (high-arched feet), and walking difficulties. Further information on CMT4 can be found at Orphanet.
March 9, 2015
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.
March 6, 2015
The first disease community to receive a therapeutic gene to the spinal cord for an ultra rare inherited neuropathy is Giant Axonal Neuropathy (GAN). Congratulations to Hannah’s Hope Fund (HHF), a 501(c)3 public charity, which has driven this collaborative research in less than six years. Six million dollars has been raised to date to fund pre-clinical and clinical research on this rare disease.
December 19, 2014
PARIS, December 18th, 2014, Pharnext SAS today announced the proof of concept of its pleotherapy research and development approach based on a proprietary network pharmacology platform that identifies synergic combinations of drugs already approved for other diseases. Indeed, Pharnext’s lead pleodrug, PXT-3003, has shown positive results both in preclinical and Phase 2 clinical studies published today in the Orphanet Journal of Rare Diseases.
December 15, 2014
My name is Courtney Hollett, Fundraising Coordinator at the Hereditary Neuropathy Foundation. This time of year I count my blessing daily and wanted to share with you a Q&A session I had with a new supporter of HNF. Kara, like myself has many family members affected with CMT and I reached out to her to share her thoughts and advice about how to “support” a friend or family member that’s affected with Charcot-MarieTooth.
December 9, 2014
In June 2013, HNF made the important decision to refine the organization’s mission. We now place more importance on new initiatives that take our research discoveries and translate them to the next phase in the drug discovery process. We divide our research initiatives into 3 areas:
September 5, 2014
Leg braces for CMT help support and hold a part of the body compromised by muscle weakness, muscular atrophy, and sensory impairment.
September 5, 2014
August 6, 2014
Learn more about key laws and benefits, including the ADAAA, FERPA, and IDEIA.
July 22, 2014
Do you know about the dangers that neurotoxic drugs hold for patients with Charcot-Marie-Tooth disease?
February 25, 2013
Five-year-old Aiden Kelly was diagnosed with Charcot-Marie-Tooth Disease (CMT) last April, but for the Wellesley boy, the impact of this rare disease has only revealed itself gradually.
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