Do you have a rare form of CMT?
We were contacted recently from a patient with CMT2D who was looking for advice on how to make a difference. Our recommendations for all people with an ultra-rare form of CMT who want to get involved:
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Courtney
Now GRIN is Accessible in 141 Different Languages!
The Global Registry for Inherited Neuropathies (GRIN) has implemented Google Translate. Why did we choose Google? Because Google is leading the way in teaching computers how to interpret meaning, avoiding the traditional method of decoding language.
Do You Have Charcot-Marie-Tooth Type 4 (CMT4)? – We Need Your Help
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.
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.
Scientific Advisory Board Meeting
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.
Breaking News: First Therapeutic Gene Therapy to Treat an Inherited Neuropathy is Approved for Clinical Trial!
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.
Saturday April 18, 2015: Jillian’s Cure SUPERHERO 5K
Jillian’s Cure SUPERHERO 5K
Saturday, April 18, 2015
at 7:00am
111 Maiden Lane
Lexington, SC 29072
Sunday May 1, 2016: 2016 TD Bank Five Boro Bike Tour
HNF is thrilled to have been chosen for the fifth year as a Charity Partner for the 2016 TD Bank Five Boro Bike Tour.
Saturday July 25, 2015: The Rochester Chrome Divas Charity Benefit
To raise awareness and fund research for CMT6 in Webster, New York!
August 16, 2015 Grace’s Courage Crusade Eighth Annual Fundraiser
Please join us for this amazing event to benefit Grace’s Courage Crusade, a passionate mission of the Sidoti/Caldarone family to support those living with Charcot-Marie-Tooth disease
Pharnext Announces Pleotherapy Proof of Concept in Charcot-Marie-Tooth Disease Type 1A
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.
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Faces of CMT – HNPP Fund (3)
Faces of CMT – James (1)
Faces of CMT – Jaxson (7)
Faces of CMT – Zach (18)
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Breathing (3)
Canine Companions (5)
Cannabis (8)
Caregivers (3)
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Emotional and Mental Health (9)
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School & College (6)
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Pediatrics & CMT (10)
Registry (16)
Research (96)
School Outreach Program and Team CMT Kids (1)
Special Events (2)
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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Vitaccess (1)
TRIAD – Research Gifts (0)
University of Helsinki (2)
Veneto (1)
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University of Cambridge (1)
University of Miami (1)
University of San Antonio Texas (1)
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Applied Therapeutics (10)
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