As a prerequisite for future human clinical trials of treatments for dysferlinopathy, it is necessary to better understand dysferlinopathy 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. This analysis was started in the original Clinical Outcome study started by Dr. Kate Bushby in 2012. The COS2 study is a follow up study which is designed to validate the findings of the original COS study and gain further understanding.
The specific goals of COS 2 are to:
- Validate the outcome measures defined in the first phase of this study in a novel set of patients.
- Evaluate the effectiveness of the best outcome measures identified, over a 6 month timeframe.
- Address shortfalls in patient reported outcomes (PRO).
- Further refine the characteristics of patient sub groups with varying rates of progression and determine whether such characteristics can be used as clinical trial inclusion/exclusion criteria.
- Gain a greater understanding of the transition from ambulant to non-ambulant and optimize outcomes that can be used to assess the non-ambulant population.
- Understand how different assessments and scales relate to each other, and identify early indicators of change and predictors of decline.
- Set up a system for long-term (beyond COS) collection of natural history data and develop standards of care.
- Increase trial site capacity and readiness