News

Flex Pharma has initiated its Phase 2 COMMIT trial to evaluate the drug candidate FLX-787 in patients with Charcot-Marie-Tooth (CMT) disease who have debilitating muscle cramps. The COMMIT study (NCT03254199) is a randomized, double-blind, trial that will be conducted at 20 centers the U.S. under Flex Pharma’s open investigational…

Five case reports of patients with Charcot-Marie-Tooth disease type 4C (CMT4C) and uncommon clinical manifestations provide new insights into the complexity of this disease and demonstrate its clinical variability. The case reports were featured in an article published in the journal Muscle & Nerve. CMT4C is caused by…

Cure CMT4J, a nonprofit foundation started by a  family whose daughter was diagnosed with Charcot Marie Tooth Type 4, or CMT4J, several years ago, is holding a fundraising gala in Newburyport, Massachusetts, this month to help advance a clinical trial. “When we received Talia’s…

Researchers have identified molecular consequences of mutations in the MORC2 gene — one of the genes that may cause Charcot-Marie Tooth (CMT) disease. The mutations, researchers at the University of Cambridge in the U.K. showed, cause alterations in what is known as epigenetic silencing, which is a mechanism for…

A new mutation that caused Charcot-Marie-Tooth disease type 4J (CMT4J) — a severe form of the condition — has been described by researchers at McGill University in Canada. The mutation was found to cause abnormal processing of cell vesicles and cells surface proteins, insights that may advance efforts to…

Eight genes in the skin of patients with Charcot-Marie-Tooth disease correlated with the severity and progression of the disorder, a study reports. The research, which applied to Charcot-Marie-Tooth disease type 1a (CMT1a), suggested that the genes could be used as biomarkers of treatments’ effectiveness, including in clinical trials. Titled “Biomarkers predict outcome in Charcot- Marie-Tooth disease 1A,” the study…

Most people with Charcot-Marie-Tooth (CMT) disease do not receive physical or occupational therapy, despite having extensive problems with physical functioning that limit mobility and quality of life, according to a report presented at the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) Annual Meeting in Phoenix, Arizona,…

An amendment in the protocol of two ongoing Phase 3 studies – the PLEO-CMT and PLEO-CMT-FU – testing the investigational drug PXT3003 in adults with Charcot-Marie-Tooth disease type 1A (CMT1A) was introduced to address stability issues with the drug’s highest dose arm, Pharnext announced. In the PLEO-CMT study (NCT02579759),…

Researchers identified a novel genetic mutation affecting the FGD4 gene in a patient with Charcot-Marie-Tooth disease type 4H (CMT4H). With an early onset, CMT4 is a slow progressive neurological disease caused by genetic variations in genes involved in nerve cells function or structure. In the CMT4H subtype, several…

A safety review board has recommended that regulators allow Pharnext to continue conducting its Phase 3 clinical trial of PXT3003 as a treatment for the neurodegenerative disease Charcot-Marie-Tooth type 1A (CMT1A). It was the second safety evaluation that the Independent Data Safety Monitoring Board had completed. The therapy passed the first…