Facioscapulohumeral Dystrophy in Children (iFocus)

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

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.

Study Overview

• Status: Completed
• Conditions: Pediatric Disorder; Facioscapulohumeral Muscular Dystrophy; Neurological Observations

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
• Enrollment (Actual): 32

Contacts and Locations

Study Locations

• Netherlands
  • Gelderland
    • Nijmegen, Gelderland, Netherlands, 6500
      • Radboud University Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 17 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

All children aged 0-17 years with genetically confirmed FSHD

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
iFSHD group; First recruitment group

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Motor Function Measure	Global motor functioning	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
ICH Body functioning: Manual Muscle Testing	Manual Muscle Testing using the 5-point scale of the Medical Research Council.	2 years
ICH Body functioning: 6 Minute Walk test	Walking Distance in 6 minutes.	2 years
ICH Body functioning: Denver II developmental screening test	Developmental level.	2 years
ICH Body functioning: visual acuity	Snellen card	2 years
ICH Body functioning: hearing	Tone- and voice audiometry	2 years
ICH Body functioning: mental functioning	Electro-encephalography performed in clinically suspected epilepsy.	2 years
ICH Body functioning: Pain	Faces scale pain.	2 years
ICH Body functioning: cardiac functioning	12 lead Electrocardiogram.	2 years
ICH Body functioning: respiratory functioning	Upright sitting spirometry measuring vital capacity and forced expiratory volume.	2 years
ICH Body functioning: muscle functions	FSHD-evaluation score, Ricci score.	2 years
ICH Body functioning: ingestion functions	TOMASS-C test.Neuromuscular disease swallowing status scale.	2 years
ICH Body structure: muscle ultrasonography	Quantitative muscle ultrasonography of 20 skeletal muscles.	2 years
ICH Body structure: eye structure	Dilated fundoscopy, optical coherence tomography, slit lamp examination	2 years
ICF: Activities and participation: Kidscreen	Kidscreen-52.	2 years
ICF: Activities and participation: NeuroQol	NeuroQol fatigue domain, qualitative anamnesis.	2 years
ICF: Activities and participation: SEV	SEV questionnaire: social-emotional functioning.	2 years
(Epi)genetic disease-modifying factors	Genetic profiling (DNA and RNA).	2 years
Prevalance estimation	Nationwide recruitment, prevalence estimation.	2 years

Collaborators and Investigators

• Sponsor: University Medical Center Nijmegen
• Collaborators: Leiden University Medical Center; Princess Beatrix Muscle Foundation
• Investigators: Principal Investigator: Baziel van Engelen, MD, PhD, Nijmegen University Medical Center

Publications and helpful links

General 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.

Helpful Links

• Publication

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2015
• Primary Completion (Actual): August 1, 2017
• Study Completion (Actual): September 10, 2019

Study Registration Dates

• First Submitted: December 2, 2015
• First Submitted That Met QC Criteria: December 4, 2015
• First Posted (Estimate): December 9, 2015

Study Record Updates

• Last Update Posted (Actual): September 26, 2019
• Last Update Submitted That Met QC Criteria: September 24, 2019
• Last Verified: September 1, 2019

More Information

Terms related to this study

• Keywords: muscular dystrophy; natural history; genetic profilling
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral
• Other Study ID Numbers: NL53213.091.15

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No
• IPD Plan Description: Patients have not given consent for IPD. Please contact researchers.