The International Clinical Outcome Study for Dysferlinopathy (COS) has been running since September 2012 with the generous support of the Jain Foundation. The John Walton Muscular Dystrophy Research Centre coordinates the study and analysis on behalf of the Jain COS consortium. COS is the largest natural history study of a Limb Girdle Muscular Dystrophy. 209 participants were enrolled in COS1. 173 completed a 3-year visit with a retention rate of 83%.   

In order to validate the outcome measures on a new cohort, and learn more about upper limb function the study reopened in 2019, including new sites.  Despite recruitment taking place during a global pandemic, the COS 2 Consortium recruited an amazing 203 participants. We now have 10 year longitudinal data for a number of participants. The study will close in June 2024.  Study Participants had the option to donate Biobank Samples at study visits. These samples can be requested through the John Walton Muscular Dystrophy Research Centre Biobank.

A list of publications is available here  COS2 – Study Results - Jain Foundation (jain-foundation.org).  Data is available on request.

Other outputs include:

• The first validated functional outcome measure  for Limb Girdle Muscular Dystrophies https://doi.org/10.1093/ptj/pzac113. This is being used in clinical trials for other Limb Girdle Muscular Dystrophies.

• The first Standards of Care recommendations for a Limb Girdle Muscular Dystrophy

• Large collection of biobank samples available for international researchers (plasma, serum, DNA, RNA and fibroblasts).

The John Walton Muscular Dystrophy Research Centre is happy to discuss coordination of natural history studies in other rare neuromuscular diseases according to your needs.