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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02625662
Other study ID # NL53213.091.15
Secondary ID
Status Completed
Phase
First received
Last updated
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
Health authority
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

Study Design


Related Conditions & MeSH terms


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
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