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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
Leiden University Medical Center
Princess Beatrix Muscle Foundation
Information provided by (Responsible Party):
RJM Goselink, University Medical Center Nijmegen

Tracking Information
First Submitted Date December 2, 2015
First Posted Date December 9, 2015
Last Update Posted Date September 26, 2019
Actual Study Start Date November 2015
Actual Primary Completion Date August 2017   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 4, 2015)
Motor Function Measure [ Time Frame: 2 years ]
Global motor functioning
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: December 4, 2015)
  • 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 ]
  • 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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Facioscapulohumeral Dystrophy in Children
Official Title Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)
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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
DNA and RNA samples
Sampling Method Probability Sample
Study Population All children aged 0-17 years with genetically confirmed FSHD
  • Neurological Observations
  • Facioscapulohumeral Muscular Dystrophy
  • Pediatric Disorder
Intervention Not Provided
Study Groups/Cohorts iFSHD group
First recruitment group
Publications * 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: September 24, 2019)
Original Estimated Enrollment
 (submitted: December 4, 2015)
Actual Study Completion Date September 10, 2019
Actual Primary Completion Date August 2017   (Final data collection date for primary outcome measure)
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
Sexes Eligible for Study: All
Ages up to 17 Years   (Child)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Netherlands
Removed Location Countries  
Administrative Information
NCT Number NCT02625662
Other Study ID Numbers NL53213.091.15
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Plan Description: Patients have not given consent for IPD. Please contact researchers.
Current Responsible Party RJM Goselink, University Medical Center Nijmegen
Original Responsible Party Same as current
Current Study Sponsor University Medical Center Nijmegen
Original Study Sponsor Same as current
  • Leiden University Medical Center
  • Princess Beatrix Muscle Foundation
Principal Investigator: Baziel van Engelen, MD, PhD Nijmegen University Medical Center
PRS Account University Medical Center Nijmegen
Verification Date September 2019