NCT02625662

Facioscapulohumeral Dystrophy in Children

Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 32 (actual)
• Sponsor: University Medical Center Nijmegen · Academic / Other
• Sex: All
• Age: 17 Years
• Healthy volunteers: Not accepted

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.

Detailed description

FSHD is a hereditary muscle disease with slowly progressive muscle weakness. In children it is a very heterogenic disease ranging from severely affected infants to mildly affected adolescents. Symptoms can include muscle weakness, pain, fatigue, epilepsy, hearing loss, vision loss, mental retardation and spinal deformities. The prevalence of these symptoms and the adequate follow-up of these symptoms is unknown. Moreover the clinical impact and social functioning of children with FSHD is under exposed. Therefore this study will focus on the total spectrum of FSHD in children. In addition, an extensive genetic screening will be conducted, searching for (epi)genetic disease modifiers and severity predictors.

Conditions

• Neurological Observations
• Facioscapulohumeral Muscular Dystrophy
• Pediatric Disorder

Timeline

• Start date: 2015-11-01
• Primary completion: 2017-08-01
• Completion: 2019-09-10
• First posted: 2015-12-09
• Last updated: 2019-09-26

Locations

1 site across 1 country: Netherlands