The first standards of care guidelines for a limb girdle muscular dystrophy


Clinical Trials

Poster Number: 141


Volker Straub, PhD, Newcastle University, Anna Mayhew, PhD, MCSP, Newcastle University, Heather Hilsden, Newcastle University, Meredith James, BAppSci, John Walton Muscular Dystrophy Research Centre

The International Clinical Outcome Study (COS) for Dysferlinopathy, a large international natural history study, was initiated in 2012 (NCT01676077) in order to characterize common and rarer phenotypic features, and to describe clinical, functional and muscle MRI outcome measures in dysferlin-deficient patients longitudinally. This study includes 15 sites from 8 different countries, recruiting >200 patients, who were evaluated initially six times over a three-year period. As the largest natural history study in LGMD, the results from the first phase of the study add significant knowledge to the course of the disease. A second phase is underway to validate the findings from phase 1, expand the cohort and initiate a care discussion with patients, as it was realised that access to therapy and care was highly variable across trial sites. Based on the results of the study and the development of validated outcomes measures, the field can now begin to translate some of this knowledge into international care guidelines (Standards of Care, SoC). With a number of potential therapies for dysferlinopathy entering human clinical trials (NCT025792, NCT01863004, NCT02710500), the development and implementation of internationally agreed SoC is becoming more urgent. SoC are important for patients in order to proactively maximise their function and quality of life over their lifetime and for the robustness of clinical trials by ensuring patients are receiving a similar care standard across all trial sites and international boundaries. As pharmacological agents are still in development or early testing stages, the dysferlinopathy patient community requires informed and expert led SoC to be delivered via their routine clinical care. Empowering patients as the experts in their condition and ensuring that whilst other treatments are in the pipeline, they receive internationally recognised SoC in diagnosis, clinical assessments and follow up via access to the most appropriate multi-disciplinary management.