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

Nationwide Children's Hospital

Status: Active, not recruiting

Conditions: Becker Muscular Dystrophy; Duchenne Muscular Dystrophy

Treatments: Genetic: Genetic characterization

Study type: Observational

Funder types: Other

Identifiers

NCT02972580

IRB16-00319

Details and patient eligibility

About

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.

Full 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: 250 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

250 participants in 4 patient groups

Cohort A

Description:

DMD/BMD Female Carriers who have/had an affected child (n=150)

Treatment:

Genetic: Genetic characterization

Cohort B

Description:

DMD/BMD Female non-carriers controls who have/had an affected child (n=50)

Treatment:

Genetic: Genetic characterization

Cohort C

Description:

Healthy Age-Matched Controls (n=50)

Treatment:

Genetic: Genetic characterization

Cohort D

Description:

DMD/BMD Female Carriers with no affected children (n=25)

Treatment:

Genetic: Genetic characterization