Facioscapulohumeral Dystrophy in Children (iFocus)
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|ClinicalTrials.gov Identifier: NCT02625662|
Recruitment Status : Completed
First Posted : December 9, 2015
Last Update Posted : September 26, 2019
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.
|Condition or disease|
|Neurological Observations Facioscapulohumeral Muscular Dystrophy Pediatric Disorder|
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.
|Study Type :||Observational|
|Actual Enrollment :||32 participants|
|Official Title:||Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)|
|Actual Study Start Date :||November 2015|
|Actual Primary Completion Date :||August 2017|
|Actual Study Completion Date :||September 10, 2019|
First recruitment group
- Motor Function Measure [ Time Frame: 2 years ]Global motor functioning
- ICH Body functioning: Manual Muscle Testing [ Time Frame: 2 years ]Manual Muscle Testing using the 5-point scale of the Medical Research Council.
- ICH Body functioning: 6 Minute Walk test [ Time Frame: 2 years ]Walking Distance in 6 minutes.
- ICH Body functioning: Denver II developmental screening test [ Time Frame: 2 years ]Developmental level.
- ICH Body functioning: visual acuity [ Time Frame: 2 years ]Snellen card
- ICH Body functioning: hearing [ Time Frame: 2 years ]Tone- and voice audiometry
- ICH Body functioning: mental functioning [ Time Frame: 2 years ]Electro-encephalography performed in clinically suspected epilepsy.
- ICH Body functioning: Pain [ Time Frame: 2 years ]Faces scale pain.
- ICH Body functioning: cardiac functioning [ Time Frame: 2 years ]12 lead Electrocardiogram.
- ICH Body functioning: respiratory functioning [ Time Frame: 2 years ]Upright sitting spirometry measuring vital capacity and forced expiratory volume.
- ICH Body functioning: muscle functions [ Time Frame: 2 years ]FSHD-evaluation score, Ricci score.
- ICH Body functioning: ingestion functions [ Time Frame: 2 years ]TOMASS-C test.Neuromuscular disease swallowing status scale.
- ICH Body structure: muscle ultrasonography [ Time Frame: 2 years ]Quantitative muscle ultrasonography of 20 skeletal muscles.
- ICH Body structure: eye structure [ Time Frame: 2 years ]Dilated fundoscopy, optical coherence tomography, slit lamp examination
- ICF: Activities and participation: Kidscreen [ Time Frame: 2 years ]Kidscreen-52.
- ICF: Activities and participation: NeuroQol [ Time Frame: 2 years ]NeuroQol fatigue domain, qualitative anamnesis.
- ICF: Activities and participation: SEV [ Time Frame: 2 years ]SEV questionnaire: social-emotional functioning.
- (Epi)genetic disease-modifying factors [ Time Frame: 2 years ]Genetic profiling (DNA and RNA).
- Prevalance estimation [ Time Frame: 2 years ]Nationwide recruitment, prevalence estimation.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02625662
|Radboud University Medical Center|
|Nijmegen, Gelderland, Netherlands, 6500|
|Principal Investigator:||Baziel van Engelen, MD, PhD||Nijmegen University Medical Center|