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

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by Cooperative International Neuromuscular Research Group
FSH Society
FSHD Global Research Foundation
Muscular Dystrophy Canada
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:
First received: September 19, 2011
Last updated: March 14, 2014
Last verified: March 2014

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 ] [ Designated as safety issue: No ]
    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.

Estimated Enrollment: 50
Study Start Date: July 2012
Estimated Study Completion Date: March 2015
Estimated Primary Completion Date: March 2015 (Final data collection date for primary outcome measure)

Genders Eligible for Study:   Both
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 ClinicalTrials.gov identifier: NCT01437345

Contact: Zoe Sund 202-476-4110 zsund@childrensnational.org
Contact: Lauren Hache, MS, CGC 412-224-2030 lhache@childrensnational.org

United States, California
University of California - Davis Recruiting
Sacramento, California, United States, 95817
Contact: Erica Goude, MS CCRP    916-734-0968    pmr.research@ucdmc.ucdavis.edu   
Principal Investigator: Craig McDonald, MD         
United States, District of Columbia
Children's National Medical Center Recruiting
Washington. DC, District of Columbia, United States, 20010
Contact: Bemnete Tadesse    202-476-4802    BTadesse@childrensnational.org   
Principal Investigator: Mathula Thangarajh, MD, PhD         
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60614
Contact: Lauren Webb    312-227-4483    LWebb@luriechildrens.org   
Principal Investigator: Nancy Kuntz, MD         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55454
Contact: Gina Chambers    612-625-4882    gchamber@umn.edu   
Principal Investigator: Peter Karachunski, MD         
Mayo Clinic Not yet recruiting
Rochester, Minnesota, United States, 55905
Contact: Wendy Korn-Peterson    507-284-3351    kornpeterson.wendy@mayo.edu   
Principal Investigator: John Bodensteiner, MD         
United States, Missouri
Washington University Recruiting
St. Louis, Missouri, United States, 63110
Contact: Betsy Malkus    314-362-1624    malkusb@neuro.wustl.edu   
Principal Investigator: Anne Connolly, MD         
United States, North Carolina
Carolinas Medical Center Recruiting
Charlotte, North Carolina, United States, 28207
Contact: Jackie Sykes    704-333-3967    Jacqueline.Sykes@carolinashealthcare.org   
Principal Investigator: Susan Sparks, MD         
Duke Children's Hospital Recruiting
Durham, North Carolina, United States, 27710
Contact: Karen Cornett, BS, MT    919-684-1143    k.cornett@duke.edu   
Principal Investigator: Edward Smith, MD         
United States, Pennsylvania
Children's Hospital of Pittsburgh of UPMC Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Contact: Andrea Smith, MS, CGC, CCRP    412-383-7207    smithal7@upmc.edu   
Principal Investigator: Paula Clemens, MD         
United States, Tennessee
University of Tennessee-Memphis Recruiting
Memphis, Tennessee, United States, 38104
Contact: Meegan Barrett-Adair    901-725-8920    mbarret9@uthsc.edu   
Principal Investigator: Tulio Bertorini         
United States, Texas
Texas Children's Hospital Recruiting
Houston, Texas, United States, 77030
Contact: Gloria Orozco    832-822-3751    gxorozco@texaschildrens.org   
Principal Investigator: Timothy Lotze, MD         
Royal Children's Hospital Recruiting
Melborne, Australia, 3052
Contact: Katy DeValle    61-3 9345 5641    Katy.DeValle@rch.org.au   
Principal Investigator: Monique Ryan, MD         
The Children's Hospital at Westmead Recruiting
Sydney, Australia
Contact: Kayla Cornett    61 2 9845 1328    kayla.cornett@health.nsw.gov.au   
Principal Investigator: Richard Webster, M.Sc         
Canada, Alberta
Alberta Children's Hospital Recruiting
Calgary, Alberta, Canada
Contact: Angela Chiu, BSc, PT    403-955-2576    angela.chiu@albertahealthservices.ca   
Principal Investigator: Jean Mah, MD         
University of Alberta Recruiting
Edmonton, Alberta, Canada, T6G 2J3
Contact: Hanna Kolski, MD    780-407-1083    Hanna.Kolski@albertahealthservices.ca   
Principal Investigator: Hanna Kolski, MD         
Canada, Ontario
Bloorview MacMillan Medical Center Not yet recruiting
Totonto, Ontario, Canada, M4G 1R8
Contact: Laura McAdams Harris, MD       lmcadam@hollandbloorview.ca   
Principal Investigator: Laura McAdams, MD         
Queen Silvia Children's Hospital Recruiting
Gothenburg, Sweden, 416 85
Contact: Ulrika Sterky       ulrika.sterky@vgregion.se   
Principal Investigator: Mar Tulinius, MD         
United Kingdom
Newcastle University Not yet recruiting
Newcastle upon Tyne, United Kingdom, NE1 3BZ
Contact: Becky Davis    0191 241 8649    becky.davis@newcastle.ac.uk   
Principal Investigator: Michela Guglieri, MD         
Sponsors and Collaborators
Cooperative International Neuromuscular Research Group
FSH Society
FSHD Global Research Foundation
Muscular Dystrophy Canada
Principal Investigator: Jean K Mah, MD, MS Alberta Children's Hospital
  More Information

No publications provided

Responsible Party: Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier: NCT01437345     History of Changes
Other Study ID Numbers: ACH0311
Study First Received: September 19, 2011
Last Updated: March 14, 2014
Health Authority: Australia: Human Research Ethics Committee
Canada: Ethics Review Committee
Sweden: Regional Ethical Review Board
United States: Institutional Review Board

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 14, 2014