Facioscapulohumeral Dystrophy in Children

NCT ID: NCT02625662

Last Updated: 2019-09-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

32 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-11-30

Study Completion Date

2019-09-10

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Neurological Observations Facioscapulohumeral Muscular Dystrophy Pediatric Disorder

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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iFSHD group

First recruitment group

No interventions assigned to this group

Eligibility Criteria

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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
Maximum Eligible Age

17 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Leiden University Medical Center

OTHER

Sponsor Role collaborator

Princess Beatrix Muscle Foundation

OTHER

Sponsor Role collaborator

University Medical Center Nijmegen

OTHER

Sponsor Role lead

Responsible Party

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RJM Goselink

Prof. dr. Baziel van Engelen

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Baziel van Engelen, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Nijmegen University Medical Center

Locations

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Radboud University Medical Center

Nijmegen, Gelderland, Netherlands

Site Status

Countries

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Netherlands

References

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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.

Reference Type DERIVED
PMID: 27530735 (View on PubMed)

Other Identifiers

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NL53213.091.15

Identifier Type: -

Identifier Source: org_study_id

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