Queen Square Centre for Neuromuscular Diseases


A Study of qMRI and the Clinical Features of Inclusion Body Myositis and Charcot Marie Tooth Disease

SponsorUniversity College London Hospitals
CIProfessor T Yousry / Dr J Thornton
UK sitesLondon Queen square
Contact detailsj.morrow@ucl.ac.uk


MRI is a key tool in the diagnosis and management of many diseases. But so far its role in neuromuscular disease has not been well established. The current standard for the diagnosis of neuromuscular disorders includes:

  • clinical examination
  • electrophysiological investigations
  • biopsy
  • genetic testing

Because of the involvement of major muscles and peripheral nerves in these disorders, MRI could play a key role in understanding neuromuscular disease.

Study information

The study will investigate the use of MRI as a tool in the study of nerve and muscle diseases. 

We will focus on two particular neuromuscular diseases

  • one primarily nerve disorder: 40 patients with genetically confirmed Charcot Marie Tooth Disease (CMT)
  • one principally muscle disorder: 40 patients with Sporadic Inclusion Body Myositis (IBM)

Also two groups of healthy volunteers each of size 40 will be the controls for the disease groups.

Each study patients will undergo:

  • an MRI scan in which the qMRI techniques developed in Phase I with the health volunteers will be applied
  • a clinical examination including an electrophysiological nerve conduction assessment

In the final phase of the study, a sub-group of the patients will be followed-up at 6 month intervals for 5 years in a longitudinal natural history study of IBM and CMT.

That will focus on the MR methods and clinical findings that were found to be the best.

Changes over time in the MRI parameters in the disease groups and healthy volunteers will be compared.

Primary objective

  • To detect changes in the nerves and muscles of patients with IBM or CMT disease using qMRI
  • to relate these changes to the measurable clinical and neurophysiological features in these diseases.

This will allow the value of various qMRI techniques as markers of disease activity and progression to be tested.

Secondary objectives of the study include:

  • The development of novel qMRI for targeted assessment of the human neuromuscular system.
  • To fully characterise both the MRI and clinical features of IBM or CMT disease as compared with healthy individuals
  • to study the progression of these characteristics with time over 5 years.