An observational study in Neurological Observations, Facioscapulohumeral Muscular Dystrophy and Pediatric Disorder, sponsored by University Medical Center Nijmegen. Completed at 1 site in Netherlands. Open to participants aged Up to 17 Years. Per ClinicalTrials.gov, last updated 2019-09-26.
Sponsored by University Medical Center Nijmegen · Observational
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.
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.
425 studies on the registry are indexed under Neurologic Manifestations; 82 are open to participants now.
This study's enrollment of 32 is below the median of 146 across 130 observational studies indexed under Neurologic Manifestations.
Browse Neurologic Manifestations studies →University Medical Center Nijmegen is the lead sponsor of 19 studies on the registry; 2 are open to participants now.
Counted across the registry records on this site, refreshed daily.
All children aged 0-17 years with genetically confirmed FSHD
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
First recruitment group
Motor Function Measure
Global motor functioning
Time frame: 2 years
ICH Body functioning: Manual Muscle Testing
Manual Muscle Testing using the 5-point scale of the Medical Research Council.
Time frame: 2 years
ICH Body functioning: 6 Minute Walk test
Walking Distance in 6 minutes.
Time frame: 2 years
ICH Body functioning: Denver II developmental screening test
Developmental level.
Time frame: 2 years
ICH Body functioning: visual acuity
Snellen card
Time frame: 2 years
ICH Body functioning: hearing
Tone- and voice audiometry
Time frame: 2 years
ICH Body functioning: mental functioning
Electro-encephalography performed in clinically suspected epilepsy.
Time frame: 2 years
ICH Body functioning: Pain
Faces scale pain.
Time frame: 2 years
ICH Body functioning: cardiac functioning
12 lead Electrocardiogram.
Time frame: 2 years
ICH Body functioning: respiratory functioning
Upright sitting spirometry measuring vital capacity and forced expiratory volume.
Time frame: 2 years
ICH Body functioning: muscle functions
FSHD-evaluation score, Ricci score.
Time frame: 2 years
ICH Body functioning: ingestion functions
TOMASS-C test.Neuromuscular disease swallowing status scale.
Time frame: 2 years
ICH Body structure: muscle ultrasonography
Quantitative muscle ultrasonography of 20 skeletal muscles.
Time frame: 2 years
ICH Body structure: eye structure
Dilated fundoscopy, optical coherence tomography, slit lamp examination
Time frame: 2 years
ICF: Activities and participation: Kidscreen
Kidscreen-52.
Time frame: 2 years
ICF: Activities and participation: NeuroQol
NeuroQol fatigue domain, qualitative anamnesis.
Time frame: 2 years
ICF: Activities and participation: SEV
SEV questionnaire: social-emotional functioning.
Time frame: 2 years
(Epi)genetic disease-modifying factors
Genetic profiling (DNA and RNA).
Time frame: 2 years
Prevalance estimation
Nationwide recruitment, prevalence estimation.
Time frame: 2 years
Plan to share: No — Patients have not given consent for IPD. Please contact researchers.
This study is completed, as verified in Sep 2019. You cannot join it, but the record below documents what was studied.
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University Medical Center Nijmegen