Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

NCT ID: NCT02834650

Last Updated: 2022-05-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

89 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-02-01

Study Completion Date

2022-03-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Muscular Dystrophy, Duchenne

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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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.

Group Type EXPERIMENTAL

Cardiac MRI without contrast

Intervention Type OTHER

Cardiac MRI

Repeat MRI scan

Intervention Type OTHER

Repeat MRI scan

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.

Group Type EXPERIMENTAL

Cardiac MRI with contrast

Intervention Type OTHER

Cardiac MRI

Blood Test

Intervention Type OTHER

Hematocrit, Creatinine, Troponin, BNP

Heart Rate

Intervention Type OTHER

Holter Monitor

Pulmonary Function Test

Intervention Type OTHER

Pulmonary Function Test

Genetic Testing

Intervention Type OTHER

Genetic Testing

Repeat MRI scan

Intervention Type OTHER

Repeat MRI scan

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.

Group Type EXPERIMENTAL

Cardiac MRI with contrast

Intervention Type OTHER

Cardiac MRI

Blood Test

Intervention Type OTHER

Hematocrit, Creatinine, Troponin, BNP

Heart Rate

Intervention Type OTHER

Holter Monitor

Pulmonary Function Test

Intervention Type OTHER

Pulmonary Function Test

Genetic Testing

Intervention Type OTHER

Genetic Testing

Repeat MRI scan

Intervention Type OTHER

Repeat MRI scan

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.

Group Type EXPERIMENTAL

Cardiac MRI with contrast

Intervention Type OTHER

Cardiac MRI

Blood Test

Intervention Type OTHER

Hematocrit, Creatinine, Troponin, BNP

Heart Rate

Intervention Type OTHER

Holter Monitor

Pulmonary Function Test

Intervention Type OTHER

Pulmonary Function Test

Genetic Testing

Intervention Type OTHER

Genetic Testing

Interventions

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Cardiac MRI with contrast

Cardiac MRI

Intervention Type OTHER

Cardiac MRI without contrast

Cardiac MRI

Intervention Type OTHER

Blood Test

Hematocrit, Creatinine, Troponin, BNP

Intervention Type OTHER

Heart Rate

Holter Monitor

Intervention Type OTHER

Pulmonary Function Test

Pulmonary Function Test

Intervention Type OTHER

Genetic Testing

Genetic Testing

Intervention Type OTHER

Repeat MRI scan

Repeat MRI scan

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

7 Years

Maximum Eligible Age

21 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

Yes

Sponsors

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National Institutes of Health (NIH)

NIH

Sponsor Role collaborator

Children's Hospital of Orange County

OTHER

Sponsor Role collaborator

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role collaborator

University of California, Los Angeles

OTHER

Sponsor Role collaborator

Stanford University

OTHER

Sponsor Role lead

Responsible Party

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Daniel Ennis

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Daniel Ennis, PhD

Role: PRINCIPAL_INVESTIGATOR

Stanford University

Locations

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University of California, Los Angeles

Los Angeles, California, United States

Site Status

Children's Hospital of Orange County

Orange, California, United States

Site Status

Stanford University

Stanford, California, United States

Site Status

Countries

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United States

Other Identifiers

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1R01HL131975-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

DMD2016

Identifier Type: -

Identifier Source: org_study_id

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