News

Acceleron’s therapy candidate ACE-083 was seen to improve total and contractile muscle volume in patients with Charcot-Marie-Tooth (CMT) disease in preliminary results from a Phase 2 trial. The study is still recruiting patients. The positive data was presented by Acceleron at this year’s…

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…