News

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…

Scientists have described a new genetic mutation in the PMP22 gene associated with a severe and early-onset form of Charcot-Marie-Tooth disease type 1A (CMT1A) in a 9-year-old girl. The case was reported in the study, “A novel homozygous variant extending the peripheral myelin protein…

Women with Charcot-Marie-Tooth (CMT) disease do not have a higher rate of pregnancy or delivery complications than women who do not have the disease, a study has found. The study, “Pregnancy outcome in Charcot‐Marie‐Tooth disease: results of the CMT‐NET cohort study in Germany,” was published in…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…