News

DTx Pharma has discovered new molecules that could be treatment candidates for Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A), reaching the second milestone of a study designed to find molecules that lower PMP22 levels. The milestone was announced in a press release from the CMT…

Problems with energy production and mitochondria, the powerhouses of cells, may be the underlying cause of an X-linked form of Charcot-Marie-Tooth disease (CMT) called CMTX6, a study in patient-derived motor neurons suggests. The study, “Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor…

Mutations that cause Charcot-Marie-Tooth disease type 4B (CMT4B) lead to an increase in the activity of a protein called mTORC1 that is responsible for the problems with myelin that characterize the disease, a study found. The findings suggest that mTORC1 may be a viable therapeutic target in CMT4B, the…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

People with Charcot-Marie-Tooth disease (CMT) may have difficulties in understanding speech, even in the absence of hearing loss, caused by problems with the nerve cells that carry signals from the ears to the brain, a study suggests. The study, “Psychoacoustics and neurophysiological auditory processing in patients…

With guidance from the U.S. Food and Drug Administration (FDA), Pharnext is planning a pivotal, final Phase 3 clinical trial of its investigational therapy PXT3003 for the treatment of…

Testing for large deletions or duplications in certain DNA regions, a form of mutation called copy number variations, is important in identifying new mutations that cause Charcot-Marie-Tooth disease (CMT), a study reports. The study, “Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a…

Changes to nerve tissue in the thigh appear to relate to clinical disability in people with Charcot-Marie-Tooth disease type 1a (CMT1a), and may be used to assess the disease’s natural progression and the effectiveness of treatment approaches, a study in patients suggests. The study, “Quantitative assessment…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

A mutation in the EGR2 gene that by itself does not cause disease was seen to result in Charcot–Marie–Tooth disease in a Spanish family, due to the concurrent presence of another non-disease causing variation in the LITAF gene, a case study reported. The deficiency in both genes — which…