Currently the FDA is working to update the process for physicians applying for accelerated patient access to investigational drugs, while the drug or biological product is being tested in clinical trials. This will also be important for the CMT community as clinical trials for this disease are being launched.
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.
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.
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.
On the 7th of November we convened our scientific advisory board meeting at the HNF offices in NY. We have written a detailed review that has been published and captures all of the discussion and make this freely available to the scientific community.
We are creating an innovative HCP Directory which provides these clinicians with additional tools to care for their patients.
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.
A movie script could not play out like this. There are very few occasions when a rare disease patient becomes the topic of a story that is truly uplifting. Often the stories are tragic or disheartening. That was not the case, however, with CMT patient Kim Goodsell.
One of the ways that some CMT patients first become aware of their disease is when they are given a drug treatment for another disease. This is termed chemotherapy-induced neurotoxicity. Drugs such as paclitaxel and the vinca alkaloids that are widely used in cancer treatment cause severe peripheral neuropathy and in some patients this exacerbates CMT, revealing it perhaps for the first time.
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.
Hello! We have our tickets and hope this is a very successful event!
Many thanks to our Rochester Chrome Divas for all of their hard work on this benefit event!
Deb & Keith
Looking forward to it!
Thank you Kat for your support!