Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-24 @ 9:30 PM
Ignite Modification Date:
2025-12-24 @ 9:30 PM
NCT ID:
NCT00468832
Eligibility Criteria:
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
Healthy Volunteers:
True
Sex:
MALE
Minimum Age:
2 Years
Maximum Age:
30 Years
Study:
NCT00468832
Study Brief:
Protocol Section:
NCT00468832