News

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

The connection between artist Andrew Wyeth’s most famous painting, Christina’s World, and Charcot-Marie-Tooth (CMT), a group of inherited disorders of the peripheral nervous system, will unfold as the Charcot-Marie-Tooth Association (CMTA) hosts its 8th Annual CMTA Gala to raise funds for clinical trials of…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

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,…