Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

May 4, 2022 updated by: Daniel Ennis, Stanford University

Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD)

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Actual)

89

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • Los Angeles, California, United States, 90024
        • University of California, Los Angeles
      • Orange, California, United States, 92868
        • Children's Hospital of Orange County
      • Stanford, California, United States, 94305
        • Stanford University

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

7 years to 21 years (Child, Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

Male

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: Non-Randomized
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / 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: Repeat MRI scan
Repeat MRI scan
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
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: Repeat MRI scan
Repeat MRI scan
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
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Myocardial Tissue Characterization
Time Frame: 6 months
Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility
6 months
Myocardial Functional Characterization
Time Frame: 6 months
Strain imaging and rotational mechanics
6 months
Genomic Analysis
Time Frame: 4 years
Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis
4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Stanford University

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)
University of California, Los Angeles
National Institutes of Health (NIH)
Children's Hospital of Orange County

Investigators

  • Principal Investigator: Daniel Ennis, PhD, Stanford University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2017

Primary Completion (Actual)

March 30, 2022

Study Completion (Actual)

March 30, 2022

Study Registration Dates

First Submitted

July 13, 2016

First Submitted That Met QC Criteria

July 13, 2016

First Posted (Estimate)

July 15, 2016

Study Record Updates

Last Update Posted (Actual)

May 10, 2022

Last Update Submitted That Met QC Criteria

May 4, 2022

Last Verified

May 1, 2022

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • DMD2016
  • 1R01HL131975-01 (U.S. NIH Grant/Contract)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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