Status:
UNKNOWN
Longitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD)
Lead Sponsor:
Cooperative International Neuromuscular Research Group
Collaborating Sponsors:
U.S. Department of Education
National Institutes of Health (NIH)
Conditions:
Duchenne Muscular Dystrophy
Eligibility:
MALE
2-30 years
Brief Summary
The purpose of this study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the Cooperative Internatio...
Detailed Description
Phenotyping Study Aims Aim 1: Longitudinally assess body function and body structure (impairment) through the measurement of anthropometrics, muscle strength and pulmonary function in subjects with D...
Eligibility Criteria
Inclusion
- DMD Subject Inclusion Criteria
- Affected subjects must be male and between the ages of 2 and 30
- Affected subjects between the ages of 2 and 4 must have a diagnosis of DMD confirmed by at least one the following OR have an older male sibling that meet at least one of the following criteria:
- Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical Duchenne dystrophy OR
- Gene deletion test positive (missing one or more exons) in the central rod domain exons 25-60) of dystrophin, where reading frame can be predicted as 'out-of-frame',and clinical picture consistent with typical Duchenne dystrophy.
- Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, other) that is expected to preclude production of the dystrophin protein(i.e. nonsense mutation, deletion/duplication leading to a downstream stop codon),with a typical clinical picture of DMD.
- Affected subjects between the ages of 5 and 30 must either fulfill the above criteria OR show evidence of a dystrophinopathy and clinical picture consistent with Duchenne Muscular Dystrophy
- Participants who have documented clinical symptoms referable to a dystrophinopathy and direct support of the diagnosis by either (1) a positive DNA analysis for dystrophin mutation, (2) a muscle biopsy demonstrating abnormal dystrophin, or (3) an elevated CK (\>5X normal), and X-linked pedigree and an affected family member who meets either criterion (1) or (2) as described above.
- NOTE: Determination of the appropriate clinical symptoms consistent with DMD will generally be the responsibility of the clinician. At a minimum this will include progressive loss of function, with additional consideration for other clinical features such as a characteristic gait, a positive Gower sign and calf pseudohypertrophy. When immunostaining of muscle biopsy is used to determining case definition, the clinical reviewer (site PI) should confirm that appropriate testing has ruled out a secondary deficiency of dystrophin. Affected subjects that do not exhibit the above symptoms consistent with DMD should be excluded.
- o Muscle weakness prevalent by 5 years of age
- \- Non-affected adult subjects must be Parent(s) or legal guardian(s) of an eligible affected subject.
- DMD Serum Biomarker Inclusion Criteria
- Participants must meet eligibility criteria for the DMD phenotyping portion of this study
- For the GC-treatment response cohort, participants must initiate GC treatment within the first year of study participation (i.e. between their first study visit and their one year follow-up visit)
- DMD Subject Exclusion Criteria
- For those subjects that confirm DMD diagnosis through a clinical picture consistent with DMD
- Steroid-naïve subjects ambulating past the 13th birthday
- Steroid users ambulating past the 16th birthday
- Subjects/families who are unwilling or unable to comply with the protocol study procedures or visits
- Controls Subject Inclusion Criteria
- Male sex
- Age 6-30 years
- Able to comply with functional testing instructions
- Control Serum Biomarker Inclusion criteria
- Participants must be male
- Participants must be free of DMD, other neuromuscular disease, or other significant concomitant illness
- Participant must be free of glucocorticoid therapy
- Control Subject Exclusion Criteria
- Musculoskeletal disease
- Musculoskeletal injury within 6 months of enrollment
- Other concomitant illness that precludes functional testing in the judgment of the investigator or clinical evaluator
- Completion of enrollment for age cohort
Exclusion
Key Trial Info
Start Date :
December 1 2005
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 1 2019
Estimated Enrollment :
551 Patients enrolled
Trial Details
Trial ID
NCT00468832
Start Date
December 1 2005
End Date
December 1 2019
Last Update
April 21 2016
Active Locations (21)
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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 of Florida
Gainesville, Florida, United States, 32610
4
Lurie Children's Hospial
Chicago, Illinois, United States, 60614