News

A panel of experts will discuss treatments that are being developed for Charcot-Marie-Tooth Type 1A disease (CMT1A) at a conference in Marseille on Sept. 8. The Charcot-Marie-Tooth symposium, sponsored by Pharnext, will be part of the 23rd Neuromuscular Days conference, according to a news release. In addition to CMT treatments,…

Flex Pharma’s board of directors has named William McVicar, PhD, as the company’s new president and chief executive officer. McVicar will continue supporting the company’s development of new therapies to treat muscle cramps and spasticity associated with serious neurological conditions. The company also announced updated development plans…

A novel mutation in the PMP22 gene was found in a family with Charcot-Marie-Tooth Disease (CMT) disease, and has been detailed in the study “A Novel Missense Mutation in Peripheral Myelin Protein‑22 Causes Charcot-Marie-Tooth Disease,” published in the Chinese Medical Journal. Most CMT1 patients (70-80 percent) have a…

Researchers in Spain conducted a large study to investigate the incidence of GDAP1 gene mutations leading to Charcot-Marie-Tooth disease (CMT). The study provided useful information on the most common mutations occurring in this gene and the clinical profile associated with each of them. It was published in the journal…

A lot of people with Charcot-Marie-Tooth (CMT) disease have surgery to correct foot deformities, a British study reports. Another important finding was that an operation requires a number of individual surgical procedures but few surgeons use the same pattern of procedures for the same type of operation. The study,  “…

Researchers have uncovered how mutations in the peripheral myelin protein P2 — recently linked to the development of Charcot-Marie-Tooth (CMT) disease — might impact myelin formation to cause the disease. P2 is part of the myelin sheath, where it acts to transfer fatty acids to and from nerve cell membranes…

Acceleron Pharma has launched a Phase 2 clinical trial (NCT03124459) to investigate the safety and effectiveness of its product ACE-083 as a potential treatment for Charcot-Marie-Tooth disease (CMT). The first patient already has been dosed, the company announced. “People diagnosed with CMT currently have no drug therapy options…

French researchers have identified two novel mutations occurring within the NEFH gene that led tof a hereditary form of Charcot-Marie-Tooth disease in two families. Their study, “Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death,” appeared in the journal Acta Neuropathologica Communications.

Researchers have identified molecular abnormalities in cells found during embryonic nerve development that are common to patients with demyelinating Charcot–Marie–Tooth (CMT) disease caused by three different mutations. The findings advance the understanding of how the disease develops, and “further studies focusing on the common molecular signature in demyelinating CMT could reveal a…

Charcot–Marie–Tooth (CMT) disease type 2, or axonal CMT, has long been associated with genetic variants of the MFN2 gene, which encodes a protein of the mitochondrial outer membrane. A Japanese study now finds that these mutations may also be related to demyelinating CMT subtype (type 1), which could help explain the different clinical…