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 will be running in 14 centres world-wide, with recruitment starting in September 2012 in some centres. For more information on the study, see www.dysferlinoutcomestudy.org.

12 Apr 2017