News

A new financial partnership between Pharnext and Alpha Blue Ocean will help support the Phase 3 clinical trial PREMIER, which is testing Pharnext’s investigational therapy PXT3003 for Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A is the most common subtype of CMT type 1, which is the most common…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

A small study described variable clinical and MRI findings in three Korean people with rare dominant intermediate Charcot Marie Tooth (CMT) disease type F.  These results may be useful for the diagnosis of CMT patients with unknown genetic mutations, the scientists…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

Researchers identified double disease-causing HSPB1 mutations in two unrelated adults with Charcot-Marie-Tooth disease type 2 subtype F (CMT2F), according to a case report. While mutations in the HSPB1 gene have been associated with CMT2F, they are usually found in only one of the gene’s copies, in which case it’s…

A man with a rare case of diabetes complicating Charcot-Marie-Tooth disease (CMT) had a recurrent foot ulcer that originally was misdiagnosed as diabetic foot. That finding in a case report describes how the overlap in symptoms from the two conditions can be challenging, and how treating the ulcer with…

Mild sensory neuropathy was found in a group of Charcot-Marie-Tooth disease type 1 subtype B (CMT1B) patients with myelin protein zero (MPZ) gene mutations that cause insufficient levels of MPZ protein, a study shows. These results are in line with those…

In a mouse model of Charcot-Marie-Tooth disease type 4J (CMT4J), gene therapy administered in the first few days of life significantly prolonged survival and eased motor and nerve defects.  The study with that finding, “…

A form of gene therapy that reduces levels of the PMP22 protein prevented the development of Charcot-Marie-Tooth disease 1A (CMT1A) features in a rat model, a study has found.  The study, “AAV2/9-mediated silencing of PMP22 prevents…

Three people from two unrelated families were found to have Charcot-Marie-Tooth disease type 2Z (CMT2Z) caused by the same MORC2 mutation, called p.Ala406Val, which was linked to severe neuropathy, a case study reported.  One patient’s condition also worsened following treatment with vinblastine…