Magnetic Resonance Imaging (MRI) as an outcome measure in Motor Neuropathies: a pilot study

Background

This is a study of diseases of the motor neuron with different speeds of progression:

• Amyotrophic Lateral Sclerosis (ALS)
• Kennedy's disease (KD)
• Distal hereditary motor neuropathy (dHMN).

MRI is not widely used in the diagnosis of these diseases. The hypothesis is that MRI can detect changes in the muscles in patients with ALS, KD and dHMN.

Reproducible outcome measures which can sensitively monitor disease progression are needed for the development of novel therapies for motor neuropathies. Muscle MRI is an excellent candidate due to its reproducibility and observer independence.

We plan to investigate various parameters obtained through muscular MRI as longitudinal biomarkers in these diseases.

Data from this study will allow establishing sample size in clinical trials to evaluate novel treatments for these diseases.

Study information

Recruitment: 12 patients each with ALS, KD and dHMN as well as 12 healthy volunteers.

Detailed clinical data will be collected, including isokinetic and isometric lower limb strength. These assessments will be repeated at 3 and 12 month intervals in ALS patients and at 6 and 12 month intervals in dHMN and KD patients. 

The proposed project will take place in two phases

1. an initial cross-sectional case control study of all patients and volunteers 

2. a longitudinal natural history study.

MRI imaging of the thigh and calf muscles will be performed in sessions lasting approximately an hour. All participants will undergo standard MRI imaging with T1-weighted and STIR sequences. The following quantitative MRI techniques will be used:

• magnetization transfer imaging
• T2 relaxometry with IDEAL-CPMG
• 3-point Dixon fat quantification.

We will not be using gadolinium contrast in this pilot study.