UCL Queen Square Institute of Neurology


Dr P. Fratta

Skeletal muscle MRI as a biomarker for ALS and SBMA

(with Tarek Yousry and John Thornton)

Aim: to develop a pipeline which will allow us to conduct small and effective clinical trials. We will combine novel biomarkers to stratify patients in homogeneous groups and validate the use of skeletal muscle MRI as a sensitive progression marker for ALS and SBMA.

Although many clinical trials have been conducted in ALS, testing more than 100 compounds, all have failed to identify any effective therapy, except for Riluzole, which has only mild disease-modifying effects. Nevertheless, it is possible that some of these compounds may have a beneficial effect in ALS subtypes, but these may have been missed due to two important limitations to ALS trials: 1) the use of very crude outcome measures and 2) the great variability in ALS clinical progression.

In order to overcome these limitations, there is now a consensus in the ALS community that in order to improve ALS clinical trials there is a critical  need for:

  • disease stratification, to identify more homogeneous patient groups;
  • development of more sensitive outcome measures, to better assess disease progression and modifications of disease course.

The MRC Centre for Neuromuscular Disorders has recently developed protocols to use skeletal muscle quantitative MRI as a sensitive measure of clinical progression in a number of neuromuscular disorders including hereditary neuropathies and adult myopathies (Morrow J et al., Lancet Neurol 2015).

We have now adapted these protocols to study muscle groups in upper and lower limbs and the bulbar region, and are currently validating them in ALS and SBMA patients.