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

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.

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Key information

Conditions

Facioscapulohumeral Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Facioscapulohumeral Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Royal Children's Hospital, Melborne, Australia

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

All Outcome Measures

Time frame: Dec 2014
- 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.

Sponsors and collaborators

Lead sponsor

Cooperative International Neuromuscular Research Group

Network

Collaborators

FSH Society, Inc.
FSHD Global Research Foundation
Muscular Dystrophy Canada
aTyr Pharma, Inc.

Registry information

Official study title

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

Acronym: FSHD

Important dates

Study start: 2012
Primary completion: 2017
Study completion: 2017
First posted: Sep 20, 2011
Registry last updated: Oct 11, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed