CMTR Research ResourcesCharcot-Marie-Tooth and Related Neuropathies Consortium
The CMTR consortium seeks to promote basic science and clinical research to understand healthy peripheral nerve function and mechanisms of CMT and related neuropathies, with an end goal of developing novel therapeutics for patients.
Please utilize this compilation of resources intended to support CMTR research:
Please reach out with additional resources that should be included and ideas for resources that need to be developed. Contact information may be found on the CMTR Board of Directors page.
Hereditary neuropathies are often categorized as hereditary motor and sensory neuropathy (HMSN), hereditary sensory neuropathy (HSN), hereditary motor neuropathy (HMN) or hereditary sensory and autonomic neuropathy (HSAN). The most common is HMSN which is more commonly called Charcot-Marie-Tooth disease (CMT). Although CMTR members primarily study and treat CMT due to its prevalence, all other hereditary neuropathies and multisystem disorders with neuropathy fall under the umbrella of CMTR. Please reference the diagram below for a complete list of CMTR diseases.
The classification of CMT and related neuropathies is quite complicated due to the large number of genes that cause these diseases (currently more that 100 for CMT), overlapping phenotypes and multiple modes of inheritance. CMT subtypes have recently been re-classified using a gene-based system.
For more background information on CMTR diseases please utilize the following resources:
Disease Background Resources
Diagnosis, Management and Treatment
Hereditary neuropathies are usually diagnosed by neurological exam, nerve conduction studies and genetic testing. Please use the resources below for more information on genetic testing.
hATTR is one of the first CMTR diseases with emergining treatment guidelines. A CMTR taskforce is currently working to establish guidelines for treating neuropathy associated with hATTR which will be posted here upon completion. Guidelines for additional CMTR diseases will be established when treatments become available.
National and Regional Inherited Neuropathy Registries
Several patient registries have been established to facilitate natural history studies and clinical trials. Please access them through the links below.
Inherited Neuropathy Registries
- Asian Oceanic Inherited Neuropathy Consortium
- European Reference Network for Neuromuscular Disorders Registry Hub
- German CMT-NET
- Global Registry for Inherited Neuropathies through the Hereditary Neuropathy Foundation
- Inherited Neuropathy Consortium Natural History Study
- Italian NMD Registry
- Treat NMD Neuromuscular Global Registry Network
Clinical Outcome Measures and Biomarkers
Measures of disease severity are required for clinical trials. Several disability scales have been established to measure disease progression and biomarker identification is ongoing.
INC Disability Scales
Training videos accessible by joining the Inherited Neuropathies Consortium.
- CMT Examination Score (CMTES)
- CMT Functional Outcome Measure (CMT-FOM)
- CMT Infant Scale (CMTInfS)
- CMT Neuropathy Score (CMTNS)
- CMT Pediatric Scale (CMTPedS)
- Pediatric CMT Quality of Life Scale (p-CMTQoL)
- Rasch-modified CMTNS (CMTNS-R)
- Rasch-modified CMTES (CMTES-R)
Disease Mutation Databases
There are an overwhelming number of mutations that cause CMTR diseases. Searchable databases have been developed to facilitate research.
Please use these miscellaneous resources to support your CMTR research.
Additional Research Resources
- BioGRID: Protein, Genetic and Chemical Interactions.
- Human Protein Atlas: Expression Database.
- The Jackson Laboratory Peripheral Neuropathy Mouse Models & Phenotypic Tools
- PNS Annual Meeting & CMTR Related Meetings
- PNS-Sponsored Educational Activities
- Quarterly Webinars Organized by the CMTR and other SIGs
- On-Demand Education Center: Access recordings of previous PNS events.
- Industry Sposored Symposia at the PNS Annual Meeting
- PNS Community Forum: For troubleshooting experiments, finding collaborators, etc.
- PNS Membership Directory: Find and connect with CMTR members. Accessible through your PNS member profile.
European Reference Network for Neuromuscular Disorders Collaborative Platform