Clinical trial NCT02625662: Facioscapulohumeral Dystrophy in Children
Official title: Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neurological Observations
Facioscapulohumeral Muscular Dystrophy
Pediatric Disorder
Keywords: muscular dystrophy
natural history
genetic profilling
Lead sponsor: University Medical Center Nijmegen
Sponsor class: OTHER
Collaborators: name: Leiden University Medical Center
name: Princess Beatrix Muscle Foundation
First posted: 2015-12-09
Enrollment: 32
Sex: ALL
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: All children aged 0-17 years with genetically confirmed FSHD

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.

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

Primary outcomes:
measure: Motor Function Measure
timeFrame: 2 years
Secondary outcomes:
measure: ICH Body functioning: Manual Muscle Testing
timeFrame: 2 years
measure: ICH Body functioning: 6 Minute Walk test
timeFrame: 2 years
measure: ICH Body functioning: Denver II developmental screening test
timeFrame: 2 years
measure: ICH Body functioning: visual acuity
timeFrame: 2 years
measure: ICH Body functioning: hearing
timeFrame: 2 years
measure: ICH Body functioning: mental functioning
timeFrame: 2 years
measure: ICH Body functioning: Pain
timeFrame: 2 years
measure: ICH Body functioning: cardiac functioning
timeFrame: 2 years
measure: ICH Body functioning: respiratory functioning
timeFrame: 2 years
measure: ICH Body functioning: muscle functions
timeFrame: 2 years
measure: ICH Body functioning: ingestion functions
timeFrame: 2 years
measure: ICH Body structure: muscle ultrasonography
timeFrame: 2 years
measure: ICH Body structure: eye structure
timeFrame: 2 years
measure: ICF: Activities and participation: Kidscreen
timeFrame: 2 years
measure: ICF: Activities and participation: NeuroQol
timeFrame: 2 years
measure: ICF: Activities and participation: SEV
timeFrame: 2 years
measure: (Epi)genetic disease-modifying factors
timeFrame: 2 years
measure: Prevalance estimation
timeFrame: 2 years
Other outcomes:
Locations:
city: Nijmegen
country: Netherlands
facility: Radboud University Medical Center
state: Gelderland
Study officials:
affiliation: Nijmegen University Medical Center
name: Baziel van Engelen, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Goselink RJ, Schreuder TH, Mul K, Voermans NC, Pelsma M, de Groot IJ, van Alfen N, Franck B, Theelen T, Lemmers RJ, Mah JK, van der Maarel SM, van Engelen BG, Erasmus CE. Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD). BMC Neurol. 2016 Aug 17;16:138. doi: 10.1186/s12883-016-0664-6.