A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy (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.
Facioscapulohumeral Muscular Dystrophy
|Study Design:||Observational Model: Cohort
Time Perspective: Cross-Sectional
|Official Title:||A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy|
- All Outcome Measures [ Time Frame: Dec 2014 ] [ Designated as safety issue: No ]
- 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.
Biospecimen Retention: Samples With DNA
Blood samples for DNA and RNA analysis are optional.
|Study Start Date:||July 2012|
|Estimated Study Completion Date:||August 2018|
|Estimated Primary Completion Date:||August 2018 (Final data collection date for primary outcome measure)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT01437345
|United States, California|
|University of California - Davis|
|Sacramento, California, United States, 95817|
|United States, District of Columbia|
|Children's National Medical Center|
|Washington. DC, District of Columbia, United States, 20010|
|United States, Minnesota|
|University of Minnesota|
|Minneapolis, Minnesota, United States, 55454|
|United States, Missouri|
|St. Louis, Missouri, United States, 63110|
|United States, North Carolina|
|Carolinas Medical Center|
|Charlotte, North Carolina, United States, 28207|
|Duke Children's Hospital|
|Durham, North Carolina, United States, 27710|
|United States, Pennsylvania|
|Children's Hospital of Pittsburgh of UPMC|
|Pittsburgh, Pennsylvania, United States, 15213|
|Royal Children's Hospital|
|Melborne, Australia, 3052|
|The Children's Hospital at Westmead|
|Alberta Children's Hospital|
|Calgary, Alberta, Canada|
|Queen Silvia Children's Hospital|
|Gothenburg, Sweden, 416 85|
|Newcastle upon Tyne, United Kingdom, NE1 3BZ|
|Principal Investigator:||Jean K Mah, MD, MS||Alberta Children's Hospital|