News

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…

Pharnext presented updates on its Phase 3 PLEO-CMT trial (NCT02579759) evaluating its investigative product PXT3003 as a potential treatment for Charcot-Marie-Tooth type 1A disease (CMT1A) at the 2017 Peripheral Nerve Society Meeting, July 8-12 in Barcelona, Spain. Data was orally presented by the company’s chief medical…

Researchers have identified MCM3AP as a gene involved in the development of a childhood-onset version of the neurological disorder Charcot-Marie-Tooth disease. The study, “MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability,” was published in the journal Brain. Charcot-Marie-Tooth disease (CMT) is a group of hereditary neuropathies, or diseases affecting…

Routine exercise done at a patient’s own pace improves strength and lessens disability in patients with Charcot-Marie-Tooth (CMT) disease, reports a Canadian study that compared patients adhering to a “self-directed” exercise program with those who do not exercise. The study, “Effects of Self-Selected Exercise on Strength in Charcot–Marie–Tooth Disease…

Flex Pharma announced that its upcoming Phase 2 COMMIT trial investigating the effects of FLX-787 in patients with cramps associated with Charcot-Marie-Tooth (CMT) disease is approved by the Inherited Neuropathies Consortium (INC). The INC is composed of academic medical centers, organizations for patient support and research resources focused…

Five European countries have agreed to Verona Pharma’s plan to begin enrolling patients in a Phase 2b clinical trial of RPL554 as a maintenance treatment for chronic obstructive pulmonary disease, or COPD. The trial will be conducted in the United Kingdom, Germany, Romania, Bulgaria, and the Czech Republic. Verona expects to start…

The United Kingdom’s National Institute for Health and Care Excellence (NICE) recently approved Daxas (roflumilast), developed by AstraZeneca, as a treatment for chronic obstructive pulmonary disease (COPD). The new indication could potentially benefit about 122,000 adults in the U.K. who are estimated to be eligible to receive Daxas, according…