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

This study is ongoing, but not recruiting participants.
FSH Society, Inc.
FSHD Global Research Foundation
Muscular Dystrophy Canada
aTyr Pharma, Inc.
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group Identifier:
First received: September 19, 2011
Last updated: November 7, 2016
Last verified: November 2016
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 Type: Observational
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

Resource links provided by NLM:

Further study details as provided by Cooperative International Neuromuscular Research Group:

Primary Outcome Measures:
  • 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.

Biospecimen Retention:   Samples With DNA
Blood samples for DNA and RNA analysis are optional.

Enrollment: 53
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)

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with infantile onset (diagnosed at birth until 10 years of age) and genetically confirmed FSHD will be recruited. This will include children and youth (less than 18 years old) with FSHD who are currently followed in pediatric neuromuscular centers, as well as adults (18 years or older) with FSHD who are identified as having infantile onset of disease by chart review, clinical exam, and genetic confirmation.

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its 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
Washington University
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
Sydney, Australia
Canada, Alberta
Alberta Children's Hospital
Calgary, Alberta, Canada
Queen Silvia Children's Hospital
Gothenburg, Sweden, 416 85
United Kingdom
Newcastle University
Newcastle upon Tyne, United Kingdom, NE1 3BZ
Sponsors and Collaborators
Cooperative International Neuromuscular Research Group
FSH Society, Inc.
FSHD Global Research Foundation
Muscular Dystrophy Canada
aTyr Pharma, Inc.
Principal Investigator: Jean K Mah, MD, MS Alberta Children's Hospital
  More Information

Responsible Party: Cooperative International Neuromuscular Research Group Identifier: NCT01437345     History of Changes
Other Study ID Numbers: ACH0311
Study First Received: September 19, 2011
Last Updated: November 7, 2016

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn processed this record on September 21, 2017