Charcot-Marie-Tooth (CMT) Disease and related disorders: A Natural History Study

Background

CMT and related disorders are a group of clinically and genetically heterogeneous disorders affecting about 1 in 2500 people.

People with the condition have upper and lower limb weakness, muscle wasting and sensory loss as a result of degeneration of peripheral nerves supplying the distal muscles.

Advances have been made in identifying the genes that cause CMT and the molecular organisation of the peripheral nervous system.

Nevertheless the optimal management and treatment of the different forms of this disorder is not known. Also, there is no natural history data for most forms of inherited neuropathies.

Study information

This is an international study, conducted in several centres in the United States and three centres in the UK.

Evaluations will consist of a neurological history and examination, nerve conduction velocity study and in a few cases skin biopsy.

Recruitment

The study will include both adult and child patients.

Primary objective

To fully characterise the features of different types of CMT and the longitudinal progression of the disease.

The study also aims to establish:

• an appropriate impairment scoring method for children with CMT
• and a database for the inherited neuropathies

The data will also be used in future clinical trials to:

• establish clinically relevant endpoints
• identify  patients with genetic characterisation to help recruitment

The information gained with this study will lead to improvements in the treatment and management of CMT.