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Completed

NCT Number: NCT02625662

Facioscapulohumeral Dystrophy in Children

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.

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Key information

Conditions

Neurological Observations Congenital, Hereditary, and Neonatal Diseases and Abnormalities Facioscapulohumeral Muscular Dystrophy Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Facioscapulohumeral Musculoskeletal Diseases Nervous System Diseases Neurologic Manifestations Neuromuscular Diseases Pathological Conditions, Signs and Symptoms Pediatric Disorder Signs and Symptoms

Age range

Up to 17 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Radboud University Medical Center

Nijmegen, Gelderland, 6500, Netherlands

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Motor Function Measure

    Time frame: 2 years

    Global motor functioning

Secondary outcomes

  1. ICH Body functioning: Manual Muscle Testing

    Time frame: 2 years

    Manual Muscle Testing using the 5-point scale of the Medical Research Council.

  2. ICH Body functioning: 6 Minute Walk test

    Time frame: 2 years

    Walking Distance in 6 minutes.

  3. ICH Body functioning: Denver II developmental screening test

    Time frame: 2 years

    Developmental level.

  4. ICH Body functioning: visual acuity

    Time frame: 2 years

    Snellen card

  5. ICH Body functioning: hearing

    Time frame: 2 years

    Tone- and voice audiometry

  6. ICH Body functioning: mental functioning

    Time frame: 2 years

    Electro-encephalography performed in clinically suspected epilepsy.

  7. ICH Body functioning: Pain

    Time frame: 2 years

    Faces scale pain.

  8. ICH Body functioning: cardiac functioning

    Time frame: 2 years

    12 lead Electrocardiogram.

  9. ICH Body functioning: respiratory functioning

    Time frame: 2 years

    Upright sitting spirometry measuring vital capacity and forced expiratory volume.

  10. ICH Body functioning: muscle functions

    Time frame: 2 years

    FSHD-evaluation score, Ricci score.

  11. ICH Body functioning: ingestion functions

    Time frame: 2 years

    TOMASS-C test.Neuromuscular disease swallowing status scale.

  12. ICH Body structure: muscle ultrasonography

    Time frame: 2 years

    Quantitative muscle ultrasonography of 20 skeletal muscles.

  13. ICH Body structure: eye structure

    Time frame: 2 years

    Dilated fundoscopy, optical coherence tomography, slit lamp examination

  14. ICF: Activities and participation: Kidscreen

    Time frame: 2 years

    Kidscreen-52.

  15. ICF: Activities and participation: NeuroQol

    Time frame: 2 years

    NeuroQol fatigue domain, qualitative anamnesis.

  16. ICF: Activities and participation: SEV

    Time frame: 2 years

    SEV questionnaire: social-emotional functioning.

  17. (Epi)genetic disease-modifying factors

    Time frame: 2 years

    Genetic profiling (DNA and RNA).

  18. Prevalance estimation

    Time frame: 2 years

    Nationwide recruitment, prevalence estimation.

Sponsors and collaborators

Lead sponsor

University Medical Center Nijmegen

Other

Collaborators

  • Leiden University Medical Center
  • Princess Beatrix Muscle Foundation

Registry information

Official study title

Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)

Acronym: iFocus

Important dates

Study start
2015
Primary completion
2017
Study completion
2019
First posted
Dec 9, 2015
Registry last updated
Sep 26, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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