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

Completed

• Conditions: Facioscapulohumeral Muscular Dystrophy

• Registration Number: NCT01437345
• Lead Sponsor: Cooperative International Neuromuscular Research Group

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2011-09-19
• Study First Submitted QC: 2011-09-19
• Study First Posted: 2011-09-20
• Study Start: 2012-07
• Primary Completion: 2017-08
• Study Completion: 2017-08
• Status Verified: 2017-10
• Last Update Submitted: 2017-10-10
• Last Update Posted: 2017-10-11

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 53

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
All Outcome Measures	Dec 2014	1. 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.; 2. 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).; 3. 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.; 4. To evaluate potential genetic modifiers of clinical phenotypes and disease progression in infantile FSHD.

Trial Locations

Locations (12)

Queen Silvia Children's Hospital; 🇸🇪 Gothenburg, Sweden

The Children's Hospital at Westmead; 🇦🇺 Sydney, Australia

Children's National Medical Center; 🇺🇸 Washington, D.C., District of Columbia, United States

Royal Children's Hospital; 🇦🇺 Melborne, Australia

University of California - Davis; 🇺🇸 Sacramento, California, United States

Newcastle University; 🇬🇧 Newcastle upon Tyne, United Kingdom

Carolinas Medical Center; 🇺🇸 Charlotte, North Carolina, United States

Washington University; 🇺🇸 Saint Louis, Missouri, United States

University of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States

Duke Children's Hospital; 🇺🇸 Durham, North Carolina, United States

Children's Hospital of Pittsburgh of UPMC; 🇺🇸 Pittsburgh, Pennsylvania, United States

Alberta Children's Hospital; 🇨🇦 Calgary, Alberta, Canada