News

The levels of two proteins — PFN2 and GAMT — may serve as potential biomarkers for monitoring disease activity and progression in patients with Charcot-Marie-Tooth disease type 2 (CMT2), a study suggests. The study, “PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease,” was published in…

Patients with Charcot-Marie-Tooth type 1A (CMT1A) can have difficulty understanding speech in a noisy background, despite having a normal hearing test, according to a study. The study, “Hidden hearing loss in patients with Charcot-Marie-Tooth disease type 1A,” which appeared in the journal Scientific Reports, also indicates…

The Muscular Dystrophy Association (MDA) awarded more than $1 million to a new clinical trial (NCT03550300) to evaluate the potential of magnetic resonance imaging (MRI) in assessing muscle changes over time in patients with Charcot-Marie-Tooth disease. The trial is led by Prof. Mary M. Reilly at the…

Mutations in DHTKD1, a recently discovered cause of a Charcot-Marie-Tooth (CMT) type 2 subtype, can lead to the disease through a mechanism involving problems with cellular metabolism, insulin release, and overproduction of a myelin protein, researchers report. The study titled “DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice” was published…

The European Medicines Agency has agreed to Pharnext SA’s pediatric investigation plan for PXT3003, an investigational therapy being developed to treat Charcot-Marie-Tooth disease type 1A (CMT1A). Because CMT1A typically appears in the first 20 years of a person’s life, Pharnext intends to explore the use of PXT3003 as…

A nerve conduction test may help to diagnose Charcot-Marie-Tooth disease type X (CMTX) patients with neurologic episodes more common to diseases of the central nervous system. The study, “The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits,” was published in the journal…

A new study has evaluated and identified the best tests to use as outcome measures, which help doctors track patient progress or deterioration, for those with Charcot-Marie-Tooth disease type 1A. The study’s goal was to determine which outcome measures can help improve disease…

Pharnext recently provided an update from its ongoing Phase 3 clinical trials evaluating PXT3003 for treating Charcot-Marie-Tooth disease type 1A (CMT1A) in adults, and also announced that some top-line results are expected by October 2018. PXT3003 is a fixed-dose combination of baclofen, naltrexone and sorbitol with orphan…

Grünenthal, the Lead Discovery Center (LDC) and the Max-Planck Society have signed a research collaboration agreement to develop new therapies for Charcot-Marie-Tooth type 1A (CMT1A). Two branches of Max-Planck are involved: Max-Planck Innovation and the Max Planck Institute of Experimental Medicine (MPI-EM). These two will work with…

Charcot-Marie-Tooth (CMT) disease type 4C is the most common recessive form of the disease in Norway. Researchers, looking at all known Norwegian patients with CMT4C, also found six new mutations that cause the disease. The study, “…