NCT02972580

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

Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 250 (estimated)
• Sponsor: Nationwide Children's Hospital · Academic / Other
• Sex: Female
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Conditions

• Duchenne Muscular Dystrophy
• Becker Muscular Dystrophy

Interventions

Type	Name	Description
GENETIC	Genetic characterization	Confirmatory genetic testing for mutation in DMD gene (Carrier Status) for subjects in respective Cohorts

Timeline

• Start date: 2016-06-01
• Primary completion: 2030-12-01
• Completion: 2030-12-01
• First posted: 2016-11-23
• Last updated: 2024-08-27

Locations

1 site across 1 country: United States