The First Steps in the New Era of FSHD Trials: Trial Readiness, Execution and Evaluation

Facioscapulohumeral dystrophy is a chronic, hereditary muscle disease that causes slow decline in muscle strength. Ultimately, approximately 20% of patients become wheelchair dependent. Due to the wide variation in disease pattern, we have seen that the more generic questionnaires and clinical tests (such as muscle strength) are not ideal as outcome measures for drug trials in FSHD. We also tested a drug called losmapimod for safety and effectiveness. This study showed that it was safe and may have shown an inhibitory effect on the disease. A later study showed that the drug was ineffective (not in this thesis). Muscle biopsies are often performed in FSHD drug studies. Our research shows that these muscle biopsies cause a lot of (short-term) pain. It therefore remains important to look for new methods and outcome measures. Finally, we concluded through interviews that participation in the drug study was experienced as positive.