Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials

Díaz-Manera, J, Fernandez-Torrón, R, Llauger, J, James, M, Mayhew, A, Smith, FE, Rufibach, L, Bushby, K and Straub, V (2017) Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials. In: Neuromuscular Disorders, S14-S14. Presented at 10th Neuromuscular Translational Research Conference, 22 March 2017 -23 March 2017, London, United Kingdom.

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Abstract

Background: The Jain Clinical Outcome Study (COS) is an international study of 203 adults with dysferlinopathy in 8 countries. Patients undergo six visits over three years, during which physiotherapy and medical assessments medical as well as muscle MRI are performed. Muscle MRI has been performed in 182 patients with a confi rmed diagnosis of dysferlinopathy in 14 diff erent centres, using 1.5T or 3T scanners from diff erent manufacturers (Philips, General Electrics, Siemens). Aims: To describe the pattern of pathology by muscle MRI in a large multinational cohort of patients with dysferlinopathy and correlate with physiotherapy assessments. Methods: The semi-quantitative analysis was performed on axial T1 weighted sequences collected at baseline visits. This analysis was performed using the Mercuri scale modifi ed by Fisher (0 to 4). 81–131 muscles were scored per patient. The pattern of muscles involved was analysed using hierarchical analysis and presented it as heat maps. MRI results have also been correlated with appropriate functional tests for each region of the body analysed. Results: The most frequently aff ected muscles were the gastrocnemius medialis and the soleus. A similar pattern of involvement was identifi ed in most patients regardless of their clinical phenotype. Increasing muscle involvement on MRI correlated positively with disease duration and functional impairment, allowing us to defi ne the most relevant regions of interest for quantitative MRI in longitudinal studies. Conclusions: The study has expanded the characterization of the patterns that can be found in dysferlinopathy patients, regardless of their clinical phenotype. We have also shown a correlation of the muscle pathology as detected by T1w MRI with disease duration and the results of related functional tests, which will be of great help in the design of future clinical trials.