Official Title
Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
Brief Title
Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD
Protocol ID
NCT02972580
Lead Sponsor
Nationwide Children's Hospital
Brief Summary
Longitudinal prospective observational study. This is a 24-month study with the
possibility of extending the data time points. Initially baseline, then 12 and 24 months
follow up studies will be completed.
Detailed Description
Four cohorts are enrolled in this study. The target population is the cohort of
genetically confirmed DMD/BMD female carriers (Cohort A). This cohort will consist of 150
DMD/BMD mothers who are somatic carriers of a mutation in the DMD gene. The data
collected for this cohort will be compared to three control groups; Control Group B is a
cohort of 50 DMD/BMD mothers who are NOT somatic carriers, Control Group C is a cohort of
50 age-matched healthy controls and Control Group D is a cohort of 25 genetically
confirmed carriers who do not have an affected child. The inclusion of a Control Group B
allows for a comparison to a group of mothers that share the emotional and cognitive
burden of caring for an affected male without having the physical or cognitive risks of
being a female carrier. The Control Group C offers robust data from an age-matched
healthy cohort for purposes of comparison. Control Group D allows for comparison to a
group of women that have the same physical or cognitive risks as the Cohort A female
carriers, but do not have the same burden of care giving.
Enrollment Count
250 participants
Eligibility Criteria
Inclusion Criteria:
- Age >18 years
- Cohort A requires a genetically confirmed mutation in the DMD gene with an affected
child
- Cohort B includes DMD/BMD mothers with NO somatic mutation in the DMD gene
- Cohort C age-matched healthy controls with a normal CK level
- Cohort D requires a genetically confirmed mutation in the DMD gene without an
affected child
- Able to complete testing in English
- Able to consent
Exclusion Criteria:
- Subjects with a contraindication to cardiac or skeletal muscle MRI
- Subjects on heart failure medication at time of enrollment
- Subjects on steroid treatment
- Presence of an inherited neurologic disease or comorbidity that may affect their
ability to complete this study
- Has a medical condition or extenuating circumstance that, in the opinion of the
investigator, might compromise the subject's ability to comply with the protocol
required testing or procedures or compromise the subject's wellbeing, safety, or
clinical interpretability
Filters
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
ACTIVE_NOT_RECRUITING
ADULT
OLDER_ADULT