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Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

This study is currently recruiting participants.
Verified April 2013 by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sponsor:
Collaborator:
FSH Society, Inc.
Information provided by (Responsible Party):
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
ClinicalTrials.gov Identifier:
NCT01671865
First received: August 21, 2012
Last updated: April 9, 2013
Last verified: April 2013
History of Changes
  Purpose

The purpose of this research study is to identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.


Condition
Facioscapulohumeral Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:

Primary Outcome Measures:
  • No primary outcome as this is an observational study. [ Time Frame: 0 ] [ Designated as safety issue: No ]

Estimated Enrollment: 60
Study Start Date: March 2012
Estimated Study Completion Date: December 2013
Estimated Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts
FSHD group
This group consists of participants who have a diagnosis of facioscapulohumeral muscular dystrophy confirmed by genetic testing.
Control group
This group consists of participants without facioscapulohumeral muscular dystrophy who are age- and gender-matched to participants in the FSHD group.

Detailed Description:

This research study is being done to compare muscle imaging findings in people with facioscapulohumeral muscular dystrophy (FSHD) to people without FSHD. Both magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in research participants. MRS is a type of imaging used to measure the levels of different chemicals in body tissues. It is done as part of a routine clinical MR exam in other parts of the body such as the brain, but has yet not been widely used in the musculoskeletal system. This research is being done to assess the effectiveness of MRS and MRI in helping doctors measure the type and severity of musculoskeletal disease. The investigators also hope to use MRI and MRS in developing outcome measures that can be used in future clinical trials for FSHD.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

This study will include a group of adults with facioscapulohumeral muscular dystrophy and a group of adults who do not have facioscapulohumeral muscular dystrophy.

Criteria

Inclusion Criteria:

  • 18 years of age or older
  • Ability to give informed consent
  • For participants with FSHD: confirmed diagnosis of FSHD through genetic testing (participants will be asked to provide copies of genetic testing results)
  • For participants without FSHD: a negative genetic test for FSHD or willingness to undergo genetic testing for FSHD

Exclusion Criteria:

  • Any contraindication to MRI scanning
  • Inability to complete a physical examination, including strength measurements
  • Current pregnancy
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01671865

Contacts
Contact: Doris G Leung, MD 443-923-9521 leungd@kennedykrieger.org
Contact: Kathryn R Wagner, MD, PhD 443-923-9525 wagnerk@kennedykrieger.org

Locations
United States, Maryland
Kennedy Krieger Institute Recruiting
Baltimore, Maryland, United States, 21205
Principal Investigator: Kathryn R Wagner, MD, PhD            
Sub-Investigator: Doris G Leung, MD            
Sponsors and Collaborators
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
FSH Society, Inc.
Investigators
Principal Investigator: Kathryn R Wagner, MD, PhD Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
  More Information

Additional Information:
Kennedy Krieger Institute Center for Genetic Muscle Disorders  This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
ClinicalTrials.gov Identifier: NCT01671865     History of Changes
Other Study ID Numbers: NA_00065256
Study First Received: August 21, 2012
Last Updated: April 9, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Hugo W. Moser Research Institute at Kennedy Krieger, Inc.:
FSHD
magnetic resonance imaging
magnetic resonance spectroscopy

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 May 22, 2013