TOWARDS TRIAL READINESS IN HEREDITARY NEUROMUSCULAR DISEASES: Developing accurate, feasible and non-invasive outcome measures.
Trial readiness in neuromuscular disease is a hot topic. With new genetic therapies emerging for rare muscle diseases - which have been untreatable since their discovery in the past century - now more than ever there is a dire need to be able to conduct clinical trials in an objective and reproducible manner.
In my doctorate I’ll be focusing on automated volumetric analysis of 6 point Dixon MRI images of complete individual muscles, first in the thighs, later in the back, of patients with LGMD2L. The hypothesis is that this will yield a more accurate representation of the continuous progression of fat infiltration in the muscles of patients with this affliction. It has already been shown that such quantitative MRI measurements of 1 cross section of the muscle are more sensitive than clinical follow up over the course of 1 year in detecting disease progression. We expect our method to be superior in sensitivity since we look at the whole muscle and it is known that fat infiltration occurs in an unpredictable patchy manner.
If this hypothesis is proven, this could be a benchmark method to base future clinical trials on.