Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access: 8–9 April 2013, Leiden, The Netherlands

Abstract

Thirty participants from eight countries representing academic centers and advocacy groups met on 8–9 April, 2013 for a workshop on clinical trial preparedness in facioscapulohumeral muscular dystrophy (FSHD). The aims of the workshop were to discuss ways to facilitate patient access to clinical trials and to reach consensus on the development of the most appropriate clinical and surrogate outcome measures for future clinical trials. FSHD is one of the most common forms of muscular dystrophy with a prevalence of 1:15,000–1:20,000 [1,2]. A dominantly inherited disease, in its most common form, FSHD is slowly progressive and causes significant lifetime morbidity, with up to 20% above age 50 requiring full time wheelchair use. The clinical spectrum of disease severity is wide and the regional distribution of muscle weakness and the pattern of progression are unique. Muscle weakness typically starts in the face and shoulders, often with striking side-to-side asymmetry, with a descending progression to involve first the distal lower extremity muscle before affecting the hip girdle muscles. Non muscular involvement in FSHD includes hearing loss and retinal vascular disease, which are typically symptomatic only in patients with the largest deletions.