Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Neurology, Orthopedic, Orthopedic |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 1/25/2019 |
| Start Date: | June 2016 |
| End Date: | December 2020 |
Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
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.
of extending the data time points. Initially baseline, then 12 and 24 months follow up
studies will be completed.
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.
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.
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
We found this trial at
1
site
Columbus, Ohio 43205
Principal Investigator: May Ling Mah, MD
Phone: 614-722-2715
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