Newly identified mutations in the IGHMBP2 gene have been associated with Charcot-Marie-Tooth disease type 2S (CMT2S), according to a study in China. Data also suggested that missense IGHMBP2 mutations localized in the functional domains of the resulting IGHMBP2 enzyme may be linked to more severe forms of the disease. Missense mutations occur when a single nucleotide change results in an amino acid swap in the resulting protein. Nucleotides are the building blocks of DNA, while amino acids are proteins’ building blocks. These findings expand the spectrum of CMT2S-associated IGH ..read more

Enrollment into Pharnext’s pivotal Phase 3 PREMIER clinical trial, testing the effectiveness and safety of PXT3003 for people with mild-to-moderate Charcot-Marie-Tooth type 1A (CMT1A), is complete. The study exceeded its target number of participants, recruiting 387 patients in 52 centers across the U.S., Canada, Europe, and Israel. Top-line data are expected in the last quarter of 2023. “Completing enrollment of the Pivotal Phase III study of PXT3003, the PREMIER trial, represents a significant milestone for Pharnext and we are delighted that the study has completed enrollment on schedu ..read more

IFB-088, a small molecule that modulates a cell’s response to stress, improved myelin formation in mouse models of Charcot-Marie-Tooth type 1 (CMT1) disease, and this translated into faster nerve signal transmission and better motor function, a study found. If the findings hold true in humans, they could lead to a potential new therapy for CMT1, the researchers noted. The study, “Treatment with IFB-088 improves neuropathy in CMT1A and CMT1B mice,” was published in Molecular Neurobiology by an international team of researchers. Certain genetic mutations cause damage to myelin, the fatty sheath ..read more

In rare cases, de novo or non-inherited mutations in one copy of the POLR3B gene can cause an early-onset demyelinating form of Charcot-Marie-Tooth disease (CMT), according to a study from Japan involving more than 800 CMT patients. While mutations in both POLR3B gene copies have been shown to cause a rare neurodevelopmental disease called hypomyelinating leukodystrophy, this is only the third report of a link between de novo mutations in one of the gene’s copies and CMT. These findings highlight that while CMT-causing POLR3B mutations are rare, the POLR3B gene should be includ ..read more