Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
|
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT02834650 |
|
Recruitment Status :
Completed
First Posted : July 15, 2016
Last Update Posted : May 10, 2022
|
Sponsor:
Stanford University
Collaborators:
National Institutes of Health (NIH)
Children's Hospital of Orange County
National Heart, Lung, and Blood Institute (NHLBI)
University of California, Los Angeles
Information provided by (Responsible Party):
Daniel Ennis, Stanford University
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Brief Summary:
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD.
Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD.
Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.
| Condition or disease | Intervention/treatment | Phase |
|---|---|---|
| Muscular Dystrophy, Duchenne | Other: Cardiac MRI with contrast Other: Cardiac MRI without contrast Other: Blood Test Other: Heart Rate Other: Pulmonary Function Test Other: Genetic Testing Other: Repeat MRI scan | Not Applicable |
The second objective is to use their well-characterized cardiac MRI biomarkers and define their sensitivity for detecting early cardiac involvement. The final objective is to use these validated cardiac MRI biomarkers to better understand the genotype-phenotype correlation in boys with DMD, which to date remain tenuous. The investigators propose a pilot study to explore cardiac genotype-phenotype correlations in boys with DMD and outlier phenotypes using approaches they have pioneered for skeletal muscle.
| Study Type : | Interventional (Clinical Trial) |
| Actual Enrollment : | 89 participants |
| Allocation: | Non-Randomized |
| Intervention Model: | Single Group Assignment |
| Masking: | None (Open Label) |
| Primary Purpose: | Basic Science |
| Official Title: | Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD) |
| Actual Study Start Date : | February 1, 2017 |
| Actual Primary Completion Date : | March 30, 2022 |
| Actual Study Completion Date : | March 30, 2022 |
Resource links provided by the National Library of Medicine
MedlinePlus Genetics related topics:
Duchenne and Becker muscular dystrophy
MedlinePlus related topics:
Muscular Dystrophy
| Arm | Intervention/treatment |
|---|---|
|
Experimental: Group 1a
Group 1a comprises healthy volunteers who will complete a Cardiac MRI without contrast. A subset of healthy volunteers will have a repeat MRI at Children's Hospital of Orange County.
|
Other: Cardiac MRI without contrast
Cardiac MRI Other: Repeat MRI scan Repeat MRI scan |
|
Experimental: Group 1b
Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test. A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County. |
Other: Cardiac MRI with contrast
Cardiac MRI Other: Blood Test Hematocrit, Creatinine, Troponin, BNP Other: Heart Rate Holter Monitor Other: Pulmonary Function Test Pulmonary Function Test Other: Genetic Testing Genetic Testing Other: Repeat MRI scan Repeat MRI scan |
|
Experimental: Group 2
Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months.
|
Other: Cardiac MRI with contrast
Cardiac MRI Other: Blood Test Hematocrit, Creatinine, Troponin, BNP Other: Heart Rate Holter Monitor Other: Pulmonary Function Test Pulmonary Function Test Other: Genetic Testing Genetic Testing Other: Repeat MRI scan Repeat MRI scan |
|
Experimental: Group 3
Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing.
|
Other: Cardiac MRI with contrast
Cardiac MRI Other: Blood Test Hematocrit, Creatinine, Troponin, BNP Other: Heart Rate Holter Monitor Other: Pulmonary Function Test Pulmonary Function Test Other: Genetic Testing Genetic Testing |
Primary Outcome Measures :
- Myocardial Tissue Characterization [ Time Frame: 6 months ]Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility
- Myocardial Functional Characterization [ Time Frame: 6 months ]Strain imaging and rotational mechanics
- Genomic Analysis [ Time Frame: 4 years ]Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis
Information from the National Library of Medicine
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | 7 Years to 21 Years (Child, Adult) |
| Sexes Eligible for Study: | Male |
| Accepts Healthy Volunteers: | Yes |
Criteria
Inclusion Criteria:
- Healthy boys or pediatric patients with DMD age 7 to 21
- Able & willing to complete an approximately 75-minute (or less) MRI exam without sedation or mechanical ventilation
- Drug regimen (if applicable) stable for at least 3 months prior to participation
Exclusion Criteria:
- Renal insufficiency (GFR<40 mL/min/m2)
- Non-MRI compatible implants (e.g. neurostimulator, pacemaker, implanted cardioverter defibrillator)
- Claustrophobia that prevents an MRI exam
- Known allergy to MRI contrast agents
- Serum potassium level of >5.0 mmol/L
- Signs and symptoms of heart failure
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): NCT02834650
Locations
| United States, California | |
| University of California, Los Angeles | |
| Los Angeles, California, United States, 90024 | |
| Children's Hospital of Orange County | |
| Orange, California, United States, 92868 | |
| Stanford University | |
| Stanford, California, United States, 94305 | |
Sponsors and Collaborators
Stanford University
National Institutes of Health (NIH)
Children's Hospital of Orange County
National Heart, Lung, and Blood Institute (NHLBI)
University of California, Los Angeles
Investigators
| Principal Investigator: | Daniel Ennis, PhD | Stanford University |
| Responsible Party: | Daniel Ennis, Principal Investigator, Stanford University |
| ClinicalTrials.gov Identifier: | NCT02834650 |
| Other Study ID Numbers: |
DMD2016 1R01HL131975-01 ( U.S. NIH Grant/Contract ) |
| First Posted: | July 15, 2016 Key Record Dates |
| Last Update Posted: | May 10, 2022 |
| Last Verified: | May 2022 |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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 |