Charcot-Marie-Tooth News

April 9, 2021April 9, 2021

$20,000 Grant Will Help Unveil How Certain Mutations Fuel CMT

Scientist Timothy Hines, PhD, was awarded a grant of $20,000 to establish cell models to study Charcot-Marie-Tooth (CMT) disease at the recent live-streamed Young Investigator Draft ceremony. The grant, co-funded ... Read more

April 7, 2021April 7, 2021

Pharnext Enrolls 1st Patient in PREMIER Trial Testing PXT3003 for CMT1A

Charcot-Marie-Tooth News, COVID-19 News

The first patient has been enrolled in a pivotal Phase 3 trial testing Pharnext’s investigational therapy PXT3003 for Charcot-Marie-Tooth disease type 1A (CMT1A), the company announced. Called PREMIER (NCT04762758), the trial intends to recruit ... Read more

April 2, 2021April 2, 2021

Cost of Rare Diseases in US? Nearly $1 Trillion in 2019, EveryLife Foundation Finds

Charcot-Marie-Tooth News

As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking. But exactly how expensive — in terms of ... Read more

March 31, 2021March 31, 2021

Interim Results of CMT&Me Study Presented in Webinar

Charcot-Marie-Tooth News

Depression, hand-and-finger weakness, and a lengthy delay from symptoms to diagnosis contribute to the burdens felt by people living with Charcot-Marie-Tooth disease (CMT). Those are among the key findings of ... Read more

March 26, 2021March 26, 2021

CMTA Grants Researchers $1.1M to Advance Trials in CMT1X, CMT2A

Charcot-Marie-Tooth News

The Charcot-Marie-Tooth Association (CMTA) has awarded $1.1 million to help scientists advance clinical trials evaluating potential treatments for CMT1X — a subtype comprising 15% of all cases among this group ... Read more

March 24, 2021March 24, 2021

Augustine Therapeutics Receives Funding to Research Treatments

Charcot-Marie-Tooth News

Augustine Therapeutics has received €1.2 million (about $1.4 million) in funding for a research project that will seek to further characterize the biology of Charcot-Marie-Tooth disease (CMT), and to investigate ... Read more

March 19, 2021March 19, 2021

#MDA2021 – Wearable Sensors Seen as Viable Measure of Function, Strength

Charcot-Marie-Tooth News

A higher number of daily steps, measured through wearable sensors, was associated significantly with more lower-body strength and functional abilities in adults with Charcot-Marie-Tooth (CMT) type 1 A disease, according ... Read more

March 17, 2021March 17, 2021

CMT2A Study Links Genetic Variants to Disease Severity

Charcot-Marie-Tooth News

A large multicenter study on the natural history of Charcot-Marie-Tooth disease type 2A (CMT2A) correlates different genetic profiles and disease-causing mutations to their effect on disease severity and progression. The ... Read more

March 12, 2021March 12, 2021

RNA-based Treatment Restores Motor Health in CMT1A Mouse Models

Charcot-Marie-Tooth News

An RNA-based treatment normalized the levels of the key PMP22 protein as well as motor function and muscle strength in two mouse models of Charcot-Marie-Tooth type 1 A disease (CMT1A), ... Read more

March 9, 2021March 9, 2021

Foundation Extends Funding for CMT1A Gene Therapy Study

Charcot-Marie-Tooth News

The CMT Research Foundation will grant additional funding to a project investigating a potential gene therapy to reduce the elevated levels of the protein PMP22 that cause Charot-Marie-Tooth type 1A ... Read more

March 8, 2021March 8, 2021

Pink, Green, Blue and Purple Lights Illuminated World for Rare Disease Day

Charcot-Marie-Tooth News, COVID-19 News

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, ... Read more

March 5, 2021March 5, 2021

Foundation Supports Promising Preclinical Work in CMT

Charcot-Marie-Tooth News

The Hereditary Neuropathy Foundation is supporting preclinical work focused on mutations in the CNTNAP1 gene, which were linked previously to symptoms of Charcot-Marie-Tooth (CMT) disease, it announced in a press release. CMT ... Read more

March 2, 2021March 2, 2021

CMT Prevalence in Denmark May Be 16% Higher Than Estimates

Charcot-Marie-Tooth News

The true prevalence of Charcot-Marie-Tooth disease (CMT) in Denmark may be higher than previously thought, according to a recent Danish study in which researchers applied diagnostic criteria for CMT to ... Read more

February 26, 2021February 26, 2021

Funding Supports Pharnext’s Phase 3 Trial of PXT3003

Charcot-Marie-Tooth News

Pharnext has received €11 million ($13.3 million) in funding to support a Phase 3 trial investigating its investigational therapy PXT3003 for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A). The ... Read more

February 25, 2021February 25, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

Charcot-Marie-Tooth News, COVID-19 News

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned ... Read more