A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD (FSHD)

A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy

This study is an observational study that aims to advance our knowledge on infantile onset FSHD. The study will include 50 participants of all ages who have presented with symptoms of FSHD between birth and 10 years of age. Study participation will involve a single day of assessments at one of the participating CINRG centers (to include physical exam, cognitive testing, eye exam, hearing test, strength testing and speech evaluations). The procedures may be split over additional days for scheduling purposes.

Study Overview

• Status: Completed
• Conditions: Facioscapulohumeral Muscular Dystrophy

• Study Type: Observational
• Enrollment (Actual): 53

Contacts and Locations

Study Locations

• Australia
  • Melborne, Australia, 3052
    • Royal Children's Hospital
  • Sydney, Australia
    • The Children's Hospital at Westmead
• Canada
  • Alberta
    • Calgary, Alberta, Canada
      • Alberta Children's Hospital
• Sweden
  • Gothenburg, Sweden, 416 85
    • Queen Silvia Children's Hospital
• United Kingdom
  • Newcastle upon Tyne, United Kingdom, NE1 3BZ
    • Newcastle University
• United States
  • California
    • Sacramento, California, United States, 95817
      • University of California - Davis
  • District of Columbia
    • Washington, D.C., District of Columbia, United States, 20010
      • Children's National Medical Center
  • Minnesota
    • Minneapolis, Minnesota, United States, 55454
      • University of Minnesota
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Washington University
  • North Carolina
    • Charlotte, North Carolina, United States, 28207
      • Carolinas Medical Center
    • Durham, North Carolina, United States, 27710
      • Duke Children's Hospital
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15213
      • Children's Hospital of Pittsburgh of UPMC

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals with infantile onset (diagnosed at birth until 10 years of age) and genetically confirmed FSHD will be recruited. This will include children and youth (less than 18 years old) with FSHD who are currently followed in pediatric neuromuscular centers, as well as adults (18 years or older) with FSHD who are identified as having infantile onset of disease by chart review, clinical exam, and genetic confirmation.

Description

Inclusion Criteria:

Affected participants must have a clinical diagnosis of FSHD, including the presence of all of the following features based on review of medical records and/or direct examination:

• Onset of symptoms involving the facial or shoulder girdle muscles
• Autosomal dominant inheritance in familial cases
• Contraction of the D4Z4 repeat array from 1-10 (10 - 38 kb) copies in the 4q35 subtelomeric region, based on established molecular genetic techniques

Exclusion Criteria:

• Symptomatic cardiomyopathy or severe cardiac arrhythmia which may limit the ability to complete the study protocol
• Maternal/mitochondrial mode of inheritance
• Evidence of an alternative diagnosis based on muscle biopsy or other available investigations

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
All Outcome Measures	Establish a standardized muscle testing protocol including both manual and quantitative muscle testing as well as function testing for use in children and adults with infantile onset FSHD.; To describe the clinical phenotypes of infantile FSHD; separately in the early infantile group (onset before age 5) and late onset group (onset between 5 and 10 years of age).; To evaluate the impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability across different age groups; as well as to evaluate the utility of the FSHD clinical severity scale.; To evaluate potential genetic modifiers of clinical phenotypes and disease progression in infantile FSHD.	Dec 2014

Collaborators and Investigators

• Sponsor: Cooperative International Neuromuscular Research Group
• Collaborators: aTyr Pharma, Inc.; Muscular Dystrophy Canada; FSHD Global Research Foundation; FSH Society, Inc.
• Investigators: Principal Investigator: Jean K Mah, MD, MS, Alberta Children's Hospital

Study record dates

Study Major Dates

• Study Start: July 1, 2012
• Primary Completion (Actual): August 1, 2017
• Study Completion (Actual): August 1, 2017

Study Registration Dates

• First Submitted: September 19, 2011
• First Submitted That Met QC Criteria: September 19, 2011
• First Posted (Estimate): September 20, 2011

Study Record Updates

• Last Update Posted (Actual): October 11, 2017
• Last Update Submitted That Met QC Criteria: October 10, 2017
• Last Verified: October 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral
• Other Study ID Numbers: ACH0311