Author Archives: Joana Fernandes, PhD

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…

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.

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…

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…

The National Heart, Lung and Blood Institute (NHLBI) of the National Institutes of Health has granted $10 million to the McDonnell Genome Institute at Washington University to investigate and identify genes associated with chronic obstructive pulmonary disease (COPD) and other lung disorders in people from diverse ethnic backgrounds. Results of…