Facioscapulohumeral Dystrophy in Children | NCT02625662

Studies
Facioscapulohumeral Dystrophy in Children

NCT02625662

Sponsor

University Medical Center Nijmegen

Status

Completed

Last Update Posted

Sep 26, 2019Actual

Enrollment

32Actual

Phase

Not provided

Conditions

Neurological Observations
Facioscapulohumeral Muscular Dystrophy
Pediatric Disorder

Interventions

Not provided

Countries

Netherlands

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2019

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Nov 2015Actual

Primary Completion Date

Aug 2017Actual

Completion Date

Sep 10, 2019Actual

First Submitted Date

Dec 2, 2015

First Submission Date that Met QC Criteria

Dec 4, 2015

First Posted Date

Dec 9, 2015Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 24, 2019

Last Update Posted Date

Sep 26, 2019Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

RJM Goselink, Prof. dr. Baziel van Engelen, University Medical Center NijmegenPrincipal Investigator

Lead Sponsor

University Medical Center NijmegenOTHER

Collaborators

Name	Class
Leiden University Medical Center	OTHER
Princess Beatrix Muscle Foundation	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

32Actual

Label	Type	Description	Intervention Names
iFSHD group		First recruitment group

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

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.

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

17 Years

Standard Ages

Child

Study Population

All children aged 0-17 years with genetically confirmed FSHD

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Baziel van Engelen, MD, PhD	Nijmegen University Medical Center	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Radboud University Medical Center		Nijmegen	Gelderland	6500	Netherlands

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
27530735	Derived	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.

ID	Term
D009461	Neurologic Manifestations
D020391	Muscular Dystrophy, Facioscapulohumeral
D009136	Muscular Dystrophies

ID	Term
D009422	Nervous System Diseases
D012816	Signs and Symptoms
D013568	Pathological Conditions, Signs and Symptoms
D020966	Muscular Disorders, Atrophic