Status:
COMPLETED
A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD
Lead Sponsor:
Cooperative International Neuromuscular Research Group
Collaborating Sponsors:
FSH Society, Inc.
FSHD Global Research Foundation
Conditions:
Facioscapulohumeral Muscular Dystrophy
Eligibility:
All Genders
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 bir...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
July 1 2012
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
August 1 2017
Estimated Enrollment :
53 Patients enrolled
Trial Details
Trial ID
NCT01437345
Start Date
July 1 2012
End Date
August 1 2017
Last Update
October 11 2017
Active Locations (12)
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1
University of California - Davis
Sacramento, California, United States, 95817
2
Children's National Medical Center
Washington D.C., District of Columbia, United States, 20010
3
University of Minnesota
Minneapolis, Minnesota, United States, 55454
4
Washington University
St Louis, Missouri, United States, 63110