Facioscapulohumeral Dystrophy in Children (iFocus)

University Medical Center Nijmegen

Status: Completed

Conditions: Neurological Observations; Pediatric Disorder; Facioscapulohumeral Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT02625662

NL53213.091.15

Details and patient eligibility

About

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.

Full 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.

Enrollment: 32 patients

Sex: All

Ages: Under 17 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• aged 0-17 years
• symptoms of facial, scapulohumeral or peroneal weakness
• genetically proven FSHD1 or FSHD2
• living in the Netherlands

Exclusion criteria

• no informed consent

Trial design

32 participants in 1 patient group

iFSHD group

Description:

First recruitment group