Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD

Plain-language summary

This study looks at skeletal muscle and cardiac involvement in carriers of DMD (Duchenne muscular dystrophy) and BMD (Becker muscular dystrophy) through genetic characterization. It can include adults over 18 with a genetically confirmed mutation in the DMD gene as well as healthy volunteers with a normal CK level. It is a non-phase observational study that is active, not recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Active, not recruiting

Sponsor

Nationwide Children's Hospital

Intervention

Genetic characterization

Start date

6/1/2016

Estimated completion

12/1/2030

Countries

United States

Related genes

Locations

• Columbus, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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