News

Ultra Rare CMT Subtype 2Z Identified in 4 Chinese Families

Scientists in China examined the relationship between genetic mutations in the MORC2 gene and the various disease characteristics in people with the rare Charcot-Marie-Tooth disease subtype 2Z (CMT2Z).  Physicians should consider their study’s findings when working to diagnose unresolved cases showing…

InFlectis Gains Patent Rights to Potential Myelin Therapy for CMT

InFlectis BioScience and the University of Chicago have entered into an agreement that grants InFlectis exclusive patent rights to use a family of small molecules as potential treatments for demyelinating disorders that include Charcot-Marie-Tooth disease (CMT). Specifically, the license covers the use of IFB-088 and IFB-048,…

EveryLife Introduces First of Kind ‘Roadmap’ to ICD Codes

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

First Global CMT Research Convention Planned for September

The CMT Research Foundation (CMTRF) will host the first Global Charcot-Marie-Tooth disease (CMT) Research Convention on Sept. 24–25 in Alexandria, Virginia, and online. “The CMT scientific community is growing rapidly. We know that real progress happens in environments that foster open collaboration and sharing of science,” Susan Ruediger,…

Alpha Blue Ocean, Pharnext Strike Deal on PXT3003 Study

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…

Double HSPB1 Mutations Linked to CMT2F in Two Patients

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…