Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

Stanford University

Status: Completed

Conditions: Muscular Dystrophy, Duchenne

Treatments: Other: Cardiac MRI without contrast; Other: Heart Rate; Other: Repeat MRI scan; Other: Pulmonary Function Test; Other: Genetic Testing; Other: Blood Test; Other: Cardiac MRI with contrast

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT02834650

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

DMD2016

Details and patient eligibility

About

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.

Full 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.

Enrollment: 89 patients

Sex: Male

Ages: 7 to 21 years old

Volunteers: Accepts 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

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

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89 participants in 4 patient groups

Group 1a

Experimental group

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.

Treatment:

Other: Repeat MRI scan

Other: Cardiac MRI without contrast

Group 1b

Experimental group

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.

Treatment:

Other: Genetic Testing

Other: Blood Test

Other: Repeat MRI scan

Other: Cardiac MRI with contrast

Other: Heart Rate

Other: Pulmonary Function Test

Group 2

Experimental group

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.

Treatment:

Other: Genetic Testing

Other: Blood Test

Other: Repeat MRI scan

Other: Cardiac MRI with contrast

Other: Heart Rate

Other: Pulmonary Function Test

Group 3

Experimental group

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.

Treatment:

Other: Genetic Testing

Other: Blood Test

Other: Cardiac MRI with contrast

Other: Heart Rate

Other: Pulmonary Function Test