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Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

Primary Purpose

Muscular Dystrophy, Duchenne

Status
Completed
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Cardiac MRI with contrast
Cardiac MRI without contrast
Blood Test
Heart Rate
Pulmonary Function Test
Genetic Testing
Repeat MRI scan
Sponsored by
Stanford University
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Muscular Dystrophy, Duchenne

Eligibility Criteria

7 Years - 21 Years (Child, Adult)MaleAccepts Healthy Volunteers

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

Sites / Locations

  • University of California, Los Angeles
  • Children's Hospital of Orange County
  • Stanford University

Arms of the Study

Arm 1

Arm 2

Arm 3

Arm 4

Arm Type

Experimental

Experimental

Experimental

Experimental

Arm Label

Group 1a

Group 1b

Group 2

Group 3

Arm Description

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 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 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 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.

Outcomes

Primary Outcome Measures

Myocardial Tissue Characterization
Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility
Myocardial Functional Characterization
Strain imaging and rotational mechanics
Genomic Analysis
Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis

Secondary Outcome Measures

Full Information

First Posted
July 13, 2016
Last Updated
May 4, 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
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1. Study Identification

Unique Protocol Identification Number
NCT02834650
Brief Title
Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
Official Title
Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD)
Study Type
Interventional

2. Study Status

Record Verification Date
May 2022
Overall Recruitment Status
Completed
Study Start Date
February 1, 2017 (Actual)
Primary Completion Date
March 30, 2022 (Actual)
Study Completion Date
March 30, 2022 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the 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

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

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.
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Muscular Dystrophy, Duchenne

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
89 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Group 1a
Arm Type
Experimental
Arm Description
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.
Arm Title
Group 1b
Arm Type
Experimental
Arm Description
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.
Arm Title
Group 2
Arm Type
Experimental
Arm Description
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.
Arm Title
Group 3
Arm Type
Experimental
Arm Description
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.
Intervention Type
Other
Intervention Name(s)
Cardiac MRI with contrast
Intervention Description
Cardiac MRI
Intervention Type
Other
Intervention Name(s)
Cardiac MRI without contrast
Intervention Description
Cardiac MRI
Intervention Type
Other
Intervention Name(s)
Blood Test
Intervention Description
Hematocrit, Creatinine, Troponin, BNP
Intervention Type
Other
Intervention Name(s)
Heart Rate
Intervention Description
Holter Monitor
Intervention Type
Other
Intervention Name(s)
Pulmonary Function Test
Intervention Description
Pulmonary Function Test
Intervention Type
Other
Intervention Name(s)
Genetic Testing
Intervention Description
Genetic Testing
Intervention Type
Other
Intervention Name(s)
Repeat MRI scan
Intervention Description
Repeat MRI scan
Primary Outcome Measure Information:
Title
Myocardial Tissue Characterization
Description
Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility
Time Frame
6 months
Title
Myocardial Functional Characterization
Description
Strain imaging and rotational mechanics
Time Frame
6 months
Title
Genomic Analysis
Description
Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis
Time Frame
4 years

10. Eligibility

Sex
Male
Minimum Age & Unit of Time
7 Years
Maximum Age & Unit of Time
21 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility 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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Daniel Ennis, PhD
Organizational Affiliation
Stanford University
Official's Role
Principal Investigator
Facility Information:
Facility Name
University of California, Los Angeles
City
Los Angeles
State/Province
California
ZIP/Postal Code
90024
Country
United States
Facility Name
Children's Hospital of Orange County
City
Orange
State/Province
California
ZIP/Postal Code
92868
Country
United States
Facility Name
Stanford University
City
Stanford
State/Province
California
ZIP/Postal Code
94305
Country
United States

12. IPD Sharing Statement

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Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

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