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

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

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

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 Summary:
Sponsor: Cooperative International Neuromuscular Research Group

Current Primary Outcome: 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.


Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Cooperative International Neuromuscular Research Group

Dates:
Date Received: September 19, 2011
Date Started: July 2012
Date Completion: August 2018
Last Updated: November 7, 2016
Last Verified: November 2016