News

Use of orthoses such as braces or other special devices can help improve the gait and balance of patients with Charcot-Marie-Tooth disease, but patients don’t always follow recommendations for their use, a review study has found. The study, “The Role of Orthotic Service in Modern Rehabilitation of Patients…

Nine previously unknown mutations in the SBF2 gene were found to cause an extremely rare type of Charcot-Marie-Tooth (CMT) disease, called CMT4B2, in seven families. The data expands the available information on clinical manifestations of the disease, which is extremely…

Regenacy Pharmaceuticals is partnering with the Charcot-Marie-Tooth Association (CMTA) to help develop the investigative therapy ricolinostat and evaluate its potential for Charcot-Marie-Tooth (CMT) in animal models. The collaboration is expected to speed the advancement of the treatment candidate…

A specific rehabilitation protocol improves hand function and is well-tolerated by patients with Charcot-Marie-Tooth disease, according to researchers. The study, “Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label Pilot Study,” appeared in the Journal of Neurology & Neurophysiology. CMT is characterized by the…

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…

A reanalysis of the genetic profile of a large Costa Rican family revealed that a PNKP gene mutation was to blame for Charcot-Marie-Tooth disease type 2 (CMT2) and not a mutation in the MED25 gene, as had been proposed in an initial evaluation 17 years ago. These findings…

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…