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Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

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ClinicalTrials.gov Identifier: NCT02834650
Recruitment Status : Recruiting
First Posted : July 15, 2016
Last Update Posted : December 2, 2017
Sponsor:
Collaborators:
National Institutes of Health (NIH)
Children’s Hospital of Orange County
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Daniel Ennis, PhD, University of California, Los Angeles

Study Description
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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information
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

Detailed Description:
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 Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 154 participants
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD)
Actual Study Start Date : February 1, 2017
Estimated Primary Completion Date : January 2021
Estimated Study Completion Date : October 2022

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Arms and Interventions
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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


Outcome Measures
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Primary Outcome Measures :
  1. Myocardial Tissue Characterization [ Time Frame: 6 months ]
    Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility

  2. Myocardial Functional Characterization [ Time Frame: 6 months ]
    Strain imaging and rotational mechanics

  3. Genomic Analysis [ Time Frame: 4 years ]
    Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis


Eligibility Criteria
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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
Contacts and Locations
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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

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


Contacts
Contact: Stephanie Gilbert 310-794-0376 sgilbert@mednet.ucla.edu
Contact: Tammy Floore, RN 310-794-9202 tfloore@mednet.ucla.edu

Locations
United States, California
University of California, Los Angeles Recruiting
Los Angeles, California, United States, 90024
Contact: Tammy Floore, BSN    310-481-7510    tfloore@mednet.ucla.edu   
Contact: Saima Chaabane, PhD    310-794-8995    schaabane@mednet.ucla.edu   
Principal Investigator: Daniel Ennis, PhD         
Children's Hospital of Orange County Recruiting
Orange, California, United States, 92868
Contact: Pierangelo Renella, MD    714-509-3939    prenella@choc.org   
Contact: Ofelia Vargas, BS    714-509-8735    Ovargas@choc.org   
Sponsors and Collaborators
University of California, Los Angeles
National Institutes of Health (NIH)
Children’s Hospital of Orange County
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Daniel Ennis, PhD University of California, Los Angeles
More Information
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Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party: Daniel Ennis, PhD, PhD, University of California, Los Angeles
ClinicalTrials.gov Identifier: NCT02834650     History of Changes
Other Study ID Numbers: DMD2016
1R01HL131975-01 ( U.S. NIH Grant/Contract )
First Posted: July 15, 2016    Key Record Dates
Last Update Posted: December 2, 2017
Last Verified: November 2017

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