CMTR Research Resources

Charcot-Marie-Tooth and Related Neuropathies Consortium

Introduction

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:

Disease Background
Diagnosis, Management and Treatment
Research Resources
Career Resources

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.

Disease Background

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.

Management recommendations are available through GeneReviews. Search by disease or gene to find tailored management recommendations or browse the CMT Overview page.

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.

Genetic Testing Resources

Research Resources

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

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)