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Trial record 29 of 33 for:    FSHD

Facioscapulohumeral Dystrophy in Children (iFocus)

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ClinicalTrials.gov Identifier: NCT02625662
Recruitment Status : Active, not recruiting
First Posted : December 9, 2015
Last Update Posted : November 1, 2017
Sponsor:
Collaborators:
Leiden University Medical Center
Princess Beatrix Muscle Foundation
Information provided by (Responsible Party):
RJM Goselink, University Medical Center Nijmegen

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.


Condition or disease
Neurological Observations Facioscapulohumeral Muscular Dystrophy Pediatric Disorder

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
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
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
Estimated Study Completion Date : September 2019


Group/Cohort
iFSHD group
First recruitment group



Primary Outcome Measures :
  1. Motor Function Measure [ Time Frame: 2 years ]
    Global motor functioning


Secondary Outcome Measures :
  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.


Biospecimen Retention:   Samples With DNA
DNA and RNA samples


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All children aged 0-17 years with genetically confirmed FSHD
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

Information from the National Library of Medicine

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


Locations
Netherlands
Radboud University Medical Center
Nijmegen, Gelderland, Netherlands, 6500
Sponsors and Collaborators
University Medical Center Nijmegen
Leiden University Medical Center
Princess Beatrix Muscle Foundation
Investigators
Principal Investigator: Baziel van Engelen, MD, PhD Nijmegen University Medical Center

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: RJM Goselink, Prof. dr. Baziel van Engelen, University Medical Center Nijmegen
ClinicalTrials.gov Identifier: NCT02625662     History of Changes
Other Study ID Numbers: NL53213.091.15
First Posted: December 9, 2015    Key Record Dates
Last Update Posted: November 1, 2017
Last Verified: October 2017

Keywords provided by RJM Goselink, University Medical Center Nijmegen:
muscular dystrophy
natural history
genetic profilling

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn