Author Archives: Alice Melao

A new genetic mutation in the MCM3AP gene was identified and associated with three cases of Charcot-Marie-Tooth (CMT) disease in one family, who also showed symptoms of multiple sclerosis (MS), according to a case study. This is the first report of a recessive form of CMT — meaning…

The National Institutes of Health (NIH) granted almost $7.2 million to the Inherited Neuropathy Consortium (INC) to further support its work improving care and clinical research on Charcot-Marie-Tooth disease (CMT) for an additional period of five years. This is the second competitive grant renewal awarded to the…

Pharnext is planning a new Phase 3 clinical study to further explore the potential of PXT3003 in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). The decision to launch this new clinical trial was based on recommendations given by the U.S. Food and Drug Administration (FDA) after completing…

Increasing levels of the mitofusin-1 (MFN1) protein in nerve cells of the spinal cord can reverse the features of Charcot-Marie-Tooth type 2A (CMT2A), a study in mice shows. The study, “Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A…

A new experimental model of Charcot-Marie-Tooth disease (CMT) type 4B2 sheds light on the role of the MTMR13 enzyme in the abnormal production of myelin known to be involved in this rare disorder, a study reports. The study, “An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2…

Modulation of Nrg1TIII signals improves production of the nerve cells’ myelin protective layer in mice with Charcot-Marie-Tooth type 1B, a study shows. Reactivation of these signals or inhibition of their natural regulators may represent a way to overcome the loss of myelin that occurs in CMT. The study, “…

Patients with Charcot-Marie-Tooth disease (CMT) type 2S may benefit from lifelong respiratory surveillance, a case report suggests. The study, “Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case,” was published in the journal Neuromuscular Disorders. CMT2S is caused by…

A newly launched international observational study is going to explore the overall impact of Charcot-Marie-Tooth disease (CMT) using a tailored app called CMT&Me. Designed by Vitaccess in collaboration with Pharnext, this new trial is expected to provide information on the disease’s medical, social, and economic impact, as…

A genetic study in fruit flies has found a new link between Charcot-Marie-Tooth (CMT) disease and amyotrophic lateral sclerosis (ALS). Conducted by researchers from the Kyoto Institute of Technology and collaborators at the Kyoto Prefectural University of Medicine in Japan, the study suggests that long-noncoding RNA molecules are…

Proprioceptive neuromuscular facilitation (PNF) muscle-stretching exercises can help prevent foot drop in patients with Charcot-Marie-Tooth (CMT) disease type 1A. The finding is reported in the study “Ipsilateral proprioceptive neuromuscular facilitation patterns improve overflow and reduce foot drop in patients with demyelinating polyneuropathy,” led by…