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 : August 31, 2023
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Sponsor:
Nationwide Children's Hospital
Collaborator:
Parent Project Muscular Dystrophy
Information provided by (Responsible Party):
May Ling Mah, Nationwide Children's Hospital
Tracking Information | |||||||||
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First Submitted Date | July 25, 2016 | ||||||||
First Posted Date | November 23, 2016 | ||||||||
Last Update Posted Date | August 31, 2023 | ||||||||
Study Start Date | June 2016 | ||||||||
Estimated Primary Completion Date | December 2025 (Final data collection date for primary outcome measure) | ||||||||
Current Primary Outcome Measures |
Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging [ Time Frame: 2 years ] Cardiac function as compromised by evidence of scarring of cardiac muscles, particularly of the base of the left ventricle via cardiac MRI studies with gadolinium contrast.
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Original Primary Outcome Measures |
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Change History | |||||||||
Current Secondary Outcome Measures |
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Original Secondary Outcome Measures |
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Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
Descriptive Information | |||||||||
Brief Title | Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD | ||||||||
Official Title | Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) | ||||||||
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. | ||||||||
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. | ||||||||
Study Type | Observational | ||||||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||||||
Biospecimen | 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.
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Sampling Method | Non-Probability Sample | ||||||||
Study Population | Cohort A: DMD/BMD Female Carriers who have/had an affected child (n=150) Cohort B: DMD/BMD Female non-carriers controls who have/had an affected child (n=50) Cohort C: Healthy Age-Matched Controls (n=50) Cohort D: DMD/BMD Female Carriers who do not have/had an affected child (n=25) | ||||||||
Condition |
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Intervention | Genetic: Genetic characterization
Confirmatory genetic testing for mutation in DMD gene (Carrier Status) for subjects in respective Cohorts
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Study Groups/Cohorts |
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Publications * | Mah ML, Cripe L, Slawinski MK, Al-Zaidy SA, Camino E, Lehman KJ, Jackson JL, Iammarino M, Miller N, Mendell JR, Hor KN. Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing. Int J Cardiol. 2020 Oct 1;316:257-265. doi: 10.1016/j.ijcard.2020.05.052. Epub 2020 May 27. | ||||||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||
Recruitment Status | Recruiting | ||||||||
Estimated Enrollment |
250 | ||||||||
Original Estimated Enrollment | Same as current | ||||||||
Estimated Study Completion Date | December 2025 | ||||||||
Estimated Primary Completion Date | December 2025 (Final data collection date for primary outcome measure) | ||||||||
Eligibility Criteria | Inclusion Criteria:
Exclusion Criteria:
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Sex/Gender |
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Ages | 18 Years and older (Adult, Older Adult) | ||||||||
Accepts Healthy Volunteers | Yes | ||||||||
Contacts |
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Listed Location Countries | United States | ||||||||
Removed Location Countries | |||||||||
Administrative Information | |||||||||
NCT Number | NCT02972580 | ||||||||
Other Study ID Numbers | IRB16-00319 | ||||||||
Has Data Monitoring Committee | No | ||||||||
U.S. FDA-regulated Product | Not Provided | ||||||||
IPD Sharing Statement | Not Provided | ||||||||
Current Responsible Party | May Ling Mah, Nationwide Children's Hospital | ||||||||
Original Responsible Party | Samiah Al-Zaidy, Nationwide Children's Hospital, Physician/Assistant Professor- Department of Pediatrics | ||||||||
Current Study Sponsor | Nationwide Children's Hospital | ||||||||
Original Study Sponsor | Same as current | ||||||||
Collaborators | Parent Project Muscular Dystrophy | ||||||||
Investigators |
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PRS Account | Nationwide Children's Hospital | ||||||||
Verification Date | August 2023 |