A Clinical Outcome Study for Dysferlinopathy
This is an international clinical research study that aims to define outcome measures for clinical trials. The main purpose is to determine which tests are best at measuring changes that can occur in all different forms of dysferlinopathies (including the most frequent clinical presentations LGMD2B and Miyoshi myopathy) as these conditions progress. This will be done by collecting accurate details through medical, physiotherapy, MRI and NMR spectroscopy assessments.
Another purpose of this study is to collect biological samples for the identification of disease markers (“biomarkers”) that allow for the monitoring of dysferlinopathies during clinical trials in a non invasive way. Donating these samples is voluntary, and if consent is given, these blood and skin samples will be stored in the MRC Neuromuscular Centre BioBank (which is part of EuroBioBank) for use in future approved research projects.
The study is fully funded by the US based Jain Foundation, sponsored by the Newcastle Upon Tyne Hospitals NHS Foundation Trust and co-ordinated by Newcastle University. It is specifically developed for patients with a genetically confirmed diagnosis of dysferlinopathy. The Clinical Outcome Study 1 (COS1) involved 15 centres world-wide and over 200 individuals, with the study running from 2012-2018. A follow-up study Clinical Outcome Study 2 (COS2) will start recruiting in spring 2019. For more information on the study, see www.dysferlinoutcomestudy.org.