Facioscapulohumeral Dystrophy in Children
- Conditions
- Pediatric DisorderFacioscapulohumeral Muscular DystrophyNeurological Observations
- Registration Number
- NCT02625662
- Lead Sponsor
- University Medical Center Nijmegen
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 32
- aged 0-17 years
- symptoms of facial, scapulohumeral or peroneal weakness
- genetically proven FSHD1 or FSHD2
- living in the Netherlands
- no informed consent
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Motor Function Measure 2 years Global motor functioning
- Secondary Outcome Measures
Name Time Method ICH Body functioning: visual acuity 2 years Snellen card
ICH Body functioning: hearing 2 years Tone- and voice audiometry
ICH Body functioning: Pain 2 years Faces scale pain.
ICH Body functioning: 6 Minute Walk test 2 years Walking Distance in 6 minutes.
ICH Body functioning: respiratory functioning 2 years Upright sitting spirometry measuring vital capacity and forced expiratory volume.
ICH Body functioning: cardiac functioning 2 years 12 lead Electrocardiogram.
ICH Body structure: eye structure 2 years Dilated fundoscopy, optical coherence tomography, slit lamp examination
ICH Body functioning: Manual Muscle Testing 2 years Manual Muscle Testing using the 5-point scale of the Medical Research Council.
ICH Body functioning: Denver II developmental screening test 2 years Developmental level.
ICH Body functioning: muscle functions 2 years FSHD-evaluation score, Ricci score.
ICH Body functioning: mental functioning 2 years Electro-encephalography performed in clinically suspected epilepsy.
ICH Body structure: muscle ultrasonography 2 years Quantitative muscle ultrasonography of 20 skeletal muscles.
ICF: Activities and participation: SEV 2 years SEV questionnaire: social-emotional functioning.
(Epi)genetic disease-modifying factors 2 years Genetic profiling (DNA and RNA).
ICH Body functioning: ingestion functions 2 years TOMASS-C test.Neuromuscular disease swallowing status scale.
ICF: Activities and participation: Kidscreen 2 years Kidscreen-52.
ICF: Activities and participation: NeuroQol 2 years NeuroQol fatigue domain, qualitative anamnesis.
Prevalance estimation 2 years Nationwide recruitment, prevalence estimation.
Trial Locations
- Locations (1)
Radboud University Medical Center
🇳🇱Nijmegen, Gelderland, Netherlands