Facioscapulohumeral Dystrophy in Children

Study Overview
=================
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.

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.

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

Conditions
-----------------
Neurological Observations, Facioscapulohumeral Muscular Dystrophy, Pediatric Disorder

Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Maximum Age: 17 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| iFSHD group<br>First recruitment group | |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Motor Function Measure | Global motor functioning | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| ICH Body functioning: Manual Muscle Testing | Manual Muscle Testing using the 5-point scale of the Medical Research Council. | 2 years | 
| ICH Body functioning: 6 Minute Walk test | Walking Distance in 6 minutes. | 2 years | 
| ICH Body functioning: Denver II developmental screening test | Developmental level. | 2 years | 
| ICH Body functioning: visual acuity | Snellen card | 2 years | 
| ICH Body functioning: hearing | Tone- and voice audiometry | 2 years | 
| ICH Body functioning: mental functioning | Electro-encephalography performed in clinically suspected epilepsy. | 2 years | 
| ICH Body functioning: Pain | Faces scale pain. | 2 years | 
| ICH Body functioning: cardiac functioning | 12 lead Electrocardiogram. | 2 years | 
| ICH Body functioning: respiratory functioning | Upright sitting spirometry measuring vital capacity and forced expiratory volume. | 2 years | 
| ICH Body functioning: muscle functions | FSHD-evaluation score, Ricci score. | 2 years | 
| ICH Body functioning: ingestion functions | TOMASS-C test.Neuromuscular disease swallowing status scale. | 2 years | 
| ICH Body structure: muscle ultrasonography | Quantitative muscle ultrasonography of 20 skeletal muscles. | 2 years | 
| ICH Body structure: eye structure | Dilated fundoscopy, optical coherence tomography, slit lamp examination | 2 years | 
| ICF: Activities and participation: Kidscreen | Kidscreen-52. | 2 years | 
| ICF: Activities and participation: NeuroQol | NeuroQol fatigue domain, qualitative anamnesis. | 2 years | 
| ICF: Activities and participation: SEV | SEV questionnaire: social-emotional functioning. | 2 years | 
| (Epi)genetic disease-modifying factors | Genetic profiling (DNA and RNA). | 2 years | 
| Prevalance estimation | Nationwide recruitment, prevalence estimation. | 2 years | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
muscular dystrophy, natural history, genetic profilling