Facioscapulohumeral Dystrophy in Children

Pediatric Disorder Clinical Trial

— iFocus  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02625662
• Other study ID #: NL53213.091.15
• Status: Completed
• Start date: November 2015
• Est. completion date: September 10, 2019

Study information

• Verified date: September 2019
• Source: University Medical Center Nijmegen
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 32
• Est. completion date: September 10, 2019
• Est. primary completion date: August 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 17 Years

Eligibility

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

Related Conditions & MeSH terms

• Facioscapulohumeral Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Facioscapulohumeral
• Neurological Observations
• Pediatric Disorder

Locations

Country	Name	City	State
Netherlands	Radboud University Medical Center	Nijmegen	Gelderland

Sponsors (3)

Lead Sponsor	Collaborator
University Medical Center Nijmegen	Leiden University Medical Center, Princess Beatrix Muscle Foundation

Country where clinical trial is conducted

Netherlands, 

Outcome

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

External Links

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