Facioscapulohumeral Dystrophy in Children

NCT02625662 | Completed DMC

• 1 other identifier: NL53213.091.15
• Study Type: observational
• Target: 32
• Locations: 1 country
• Sites: 1

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.

Conditions

Neurological Observations; Facioscapulohumeral Muscular Dystrophy; Pediatric Disorder

Keywords

muscular dystrophy; natural history; genetic profilling

Outcome Measures

Primary Outcomes (1)

• Motor Function Measure

  Global motor functioning

  2 years

Secondary Outcomes (18)

• ICH Body functioning: Manual Muscle Testing

  2 years

• ICH Body functioning: 6 Minute Walk test

  2 years

• ICH Body functioning: Denver II developmental screening test

  2 years

• ICH Body functioning: visual acuity

  2 years

• ICH Body functioning: hearing

  2 years

Study Arms (1)

iFSHD group

First recruitment group

Eligibility Criteria

• Age: Up to 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

All children aged 0-17 years with genetically confirmed FSHD

You may qualify if:

• aged 0-17 years
• symptoms of facial, scapulohumeral or peroneal weakness
• genetically proven FSHD1 or FSHD2
• living in the Netherlands

You may not qualify if:

• no informed consent

Sponsors & Collaborators

• University Medical Center Nijmegen: lead
• Leiden University Medical Center: collaborator
• Princess Beatrix Muscle Foundation: collaborator

Study Sites (1)

Radboud University Medical Center

Nijmegen, Gelderland, 6500, Netherlands

Location

Related Publications (1)

• 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.

  PMID: 27530735 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

DNA and RNA samples

MeSH Terms

Conditions

Neurologic Manifestations; Muscular Dystrophy, Facioscapulohumeral; Muscular Dystrophies

Condition Hierarchy (Ancestors)

Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Baziel van Engelen, MD, PhD

  Nijmegen University Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Prof. dr. Baziel van Engelen

Study Record Dates

• First Submitted: December 2, 2015
• First Posted: December 9, 2015
• Study Start: November 1, 2015
• Primary Completion: August 1, 2017
• Study Completion: September 10, 2019
• Last Updated: September 26, 2019

Record last verified: 2019-09

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1)