A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Sponsor
- Cooperative International Neuromuscular Research Group
- Enrollment
- 53
- Locations
- 12
- Primary Endpoint
- All Outcome Measures
- Status
- Completed
- Last Updated
- 8 years ago
Overview
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.
Investigators
Eligibility Criteria
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
Outcomes
Primary Outcomes
All Outcome Measures
Time Frame: 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.