An International Clinical Outcome Study for Dysferlinopathy (LGMD2B/Miyoshi)
As a prerequisite for future human clinical trials of treatments for dysferlinopathy, it is necessary to better dysferlinopathies in the absence of treatment. This will provide a baseline for future studies, as well as assist in the clinical design of future trials. In particular, it will help define how many patients will be needed to participate in trials, what duration of the trial will be necessary to observe an effect of treatment, and which clinical evaluations are most informative as to a patient's condition. The current project builds on existing national and international networks to bring together a critical mass to address the following specific aims:
- Define the progression and variability of dysferlinopathy in a large unselected patient group with respect to age and nature of onset, progression and presence of complications via existing and expanded registries and databases
- Study a selection of possible outcome measures for dysferlinopathy trials over a three year period in a multicentre evaluation of 150 patients based in centres of excellence for muscular dystrophy diagnosis and management
- Extend the existing registry activities co-ordinated by the Jain Foundation to ensure a comprehensive patient registry for dysferlinopathy, within the TREAT-NMD international registry framework
- Establish and disseminate standards of diagnosis and care for dysferlinopathy
- Identify biomarkers that could be used in future clinical trials
The website for this study can be found at www.dysferlinoutcomestudy.org.