Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)
Brief Summary:
This study will focus on the symptoms, natural history and clinical impact of facioscapulohumeral muscular dystrophy (FSHD) in children.
Symptoms of classical FSHD start in adulthood. However, a small subgroup of FSHD patients have an early, childhood onset. This early onset is associated with faster progression and other symptoms like hearing loss and epilepsy.
The symptoms, natural history and clinical impact of FSHD in children are largely unknown.
The results of this study will be vital for adequate symptomatic management and trial-readiness.