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

2016-11-25 14:25:12 | BioPortfolio

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.

Description

Three 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 two control groups; Control Group B is a cohort of 50 DMD/BMD mothers who are NOT somatic carriers and Control Group C is a cohort of 50 age-matched healthy controls. 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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Duchenne Muscular Dystrophy

Intervention

Genetic characterization

Location

Nationwide Children's Hosptial
Columbus
Ohio
United States
43205

Status

Recruiting

Source

Nationwide Children's Hospital

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-11-25T14:25:12-0500

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Medical and Biotech [MESH] Definitions

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