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…
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…
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…
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…
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, “…
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