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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:
Parent Project Muscular Dystrophy
Information provided by (Responsible Party):
Samiah Al-Zaidy, Nationwide Children's Hospital

Brief 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.

Condition or disease Intervention/treatment
Duchenne Muscular Dystrophy Becker Muscular Dystrophy Genetic: Genetic characterization

Detailed 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 Type : Observational
Estimated Enrollment : 250 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
Study Start Date : June 2016
Estimated Primary Completion Date : August 2020
Estimated Study Completion Date : August 2020


Group/Cohort Intervention/treatment
Cohort A:
DMD/BMD Female Carriers (n=150)
Genetic: Genetic characterization
Longitudinal prospective observational study
Cohort B
DMD/BMD Female non-carriers controls= (n=50)
Genetic: Genetic characterization
Longitudinal prospective observational study
Cohort C
Healthy Age-Matched Controls (n=50)
Genetic: Genetic characterization
Longitudinal prospective observational study



Primary Outcome Measures :
  1. Cardiac Function [ Time Frame: 2 years ]
    Cardiac function as defined by cardiac MRI studies and treadmill SVO2

  2. Skeletal Muscle Strength [ Time Frame: 2 years ]
    Skeletal muscle strength as evaluated by myometry and 6MWT testing


Secondary Outcome Measures :
  1. Laboratory biomarkers [ Time Frame: 2 years ]
    Laboratory biomarkers of disease and stress burden: CK enzyme level, hair cortisol levels, pro-inflammatory markers

  2. WAISI [ Time Frame: 2 years ]
    WAISI online survey for caregiver stress


Biospecimen Retention:   Samples With DNA
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.


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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
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)
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02972580


Contacts
Contact: Eric Camino, PhD 614-722-2715 eric.camino@nationwidechildrens.org
Contact: Stephanie Diemer, MS 614-355-2679

Locations
United States, Ohio
Nationwide Children's Hosptial Recruiting
Columbus, Ohio, United States, 43205
Contact: Eric Camino, PhD    614-722-2715    eric.camino@natiowidechildrens.org   
Contact: Stephanie Diemer, MS    614-355-2679    stephanie.diemer@nationwidechildrens.org   
Principal Investigator: Samiah Al-Zaidy, MD         
Principal Investigator: May Ling Mah, MD         
Sub-Investigator: Jerry Mendell, MD         
Sub-Investigator: Kan Hor, MD         
Sub-Investigator: Linda Cripe, MD         
Sub-Investigator: Jamie Jackson, PhD         
Sub-Investigator: Lindsay Alfano         
Sub-Investigator: Kelly Lehman, CNP         
Sponsors and Collaborators
Nationwide Children's Hospital
Parent Project Muscular Dystrophy
Investigators
Principal Investigator: Jerry Mendell, MD PI

Responsible Party: Samiah Al-Zaidy, Physician/Assistant Professor- Department of Pediatrics, Nationwide Children's Hospital
ClinicalTrials.gov Identifier: NCT02972580     History of Changes
Other Study ID Numbers: IRB16-00319
First Posted: November 23, 2016    Key Record Dates
Last Update Posted: November 24, 2017
Last Verified: November 2017

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked