The GJB1 gene protein is affected and is called connexin 32. CMT1X is a peripheral sensorimotor neuropathy and usually onset is in childhood (first decade) and affects males, however central nervous system involvement has been reported. Females tend to be milder or may be asymptomatic. There are cases of sensorineural deafness.
HNF Research Initiatives
Natural History Studies
The Global Registry for Inherited Neuropathies (GRIN)
The Global Registry for Inherited Neuropathies (GRIN) was developed in 2013 to stratify large groups of patients for all types of CMT to gain a deeper understanding of CMT. This important data also allows HNF to better identify the burden, diagnostic journey, and prevalence of CMT that will aid TRIAD research partners. Patient data = Improved Research & Clinical Trial Design.
A smartphone digital study sponsored by Pharnext Pharmaceuticals in collaboration with HNF, other CMT advocacy groups and experts in six countries to collect real-world anonymised data from adults (≥18 years) living with CMT. The aggregated data is available in close to real time, via dashboards and is analyzed based on pre-set criteria (ie. diseases stage, daily symptoms, age, demographics) to understand the real-world impact of CMT and the unmet needs of patients.