News

The chemotherapy agent oxaliplatin does not increase the risk of chemotherapy-induced peripheral neuropathy (CIPN), one of its most common side effects, in patients with uncommon variants in genes that cause Charcot-Marie-Tooth (CMT) disease, a study found. Treatment with oxaliplatin should not be interrupted if such genetic variants are…

Telemedicine is valuable for continuing physical therapy with people unable to travel or affected by the ongoing pandemic, according to researchers who used it to help a man in Italy, the first known case of a Charcot-Marie-Tooth (CMT) patient suspected of having COVID-19.  Their report,…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Two genetic mutations that cause subtypes of Charcot-Marie-Tooth (CMT) disease are not common in Iranian CMT type 4 patients, despite their high prevalence in other similar populations with consanguineous marriage, a study has found.  One new mutation was identified in…

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…