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

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ClinicalTrials.gov Identifier: NCT02972580
Recruitment Status : Recruiting
First Posted : November 23, 2016
Last Update Posted : November 24, 2017
Sponsor:
Collaborator:
Information provided by (Responsible Party):

July 25, 2016
November 23, 2016
November 24, 2017
June 2016
August 2020   (Final data collection date for primary outcome measure)
  • Cardiac Function [ Time Frame: 2 years ]
    Cardiac function as defined by cardiac MRI studies and treadmill SVO2
  • Skeletal Muscle Strength [ Time Frame: 2 years ]
    Skeletal muscle strength as evaluated by myometry and 6MWT testing
  • Cardiac Function [ Time Frame: 2 years ]
    Cardiac function as defined by cardiac MRI studies and treadmill SVO2
  • Skeletal Muscle Strength [ Time Frame: 2 years ]
Complete list of historical versions of study NCT02972580 on ClinicalTrials.gov Archive Site
  • Laboratory biomarkers [ Time Frame: 2 years ]
    Laboratory biomarkers of disease and stress burden: CK enzyme level, hair cortisol levels, pro-inflammatory markers
  • WAISI [ Time Frame: 2 years ]
    WAISI online survey for caregiver stress
Same as current
Not Provided
Not Provided
 
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)
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.
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.
Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:
The blood sample for genetic testing will be delivered to the Molecular Genetics lab at Nationwide Children's Hospital, where genomic DNA will be isolated from peripheral white blood cells. DNA will be banked frozen while a portion of the sample will be delivered to the Emory Molecular Genetics Laboratories for testing of the DMD gene.
Non-Probability Sample
Cohort A: DMD/BMD Female Carriers (n=150) Cohort B: DMD/BMD Female non-carriers controls= (n=50) Cohort C: Healthy Age-Matched Controls (n=50)
  • Duchenne Muscular Dystrophy
  • Becker Muscular Dystrophy
Genetic: Genetic characterization
Longitudinal prospective observational study
  • Cohort A:
    DMD/BMD Female Carriers (n=150)
    Intervention: Genetic: Genetic characterization
  • Cohort B
    DMD/BMD Female non-carriers controls= (n=50)
    Intervention: Genetic: Genetic characterization
  • Cohort C
    Healthy Age-Matched Controls (n=50)
    Intervention: Genetic: Genetic characterization
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
250
August 2020
August 2020   (Final data collection date for primary outcome measure)

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
  • 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
Sexes Eligible for Study: Female
18 Years and older   (Adult, Senior)
Yes
Contact: Eric Camino, PhD 614-722-2715 eric.camino@nationwidechildrens.org
Contact: Stephanie Diemer, MS 614-355-2679
United States
 
 
NCT02972580
IRB16-00319
No
Not Provided
Not Provided
Samiah Al-Zaidy, Nationwide Children's Hospital
Nationwide Children's Hospital
Parent Project Muscular Dystrophy
Principal Investigator: Jerry Mendell, MD PI
Nationwide Children's Hospital
November 2017