Clinical trial NCT02834650: 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
Overall status: COMPLETED
Phase: NA
Conditions: Muscular Dystrophy, Duchenne
Lead sponsor: Stanford University
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: Children's Hospital of Orange County
name: National Heart, Lung, and Blood Institute (NHLBI)
name: University of California, Los Angeles
First posted: 2016-07-15
Enrollment: 89
Sex: MALE
Minimum age (years): 7
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: BASIC_SCIENCE

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.

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

Primary outcomes:
measure: Myocardial Tissue Characterization
timeFrame: 6 months
measure: Myocardial Functional Characterization
timeFrame: 6 months
measure: Genomic Analysis
timeFrame: 4 years
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: University of California, Los Angeles
state: California
city: Orange
country: United States
facility: Children's Hospital of Orange County
state: California
city: Stanford
country: United States
facility: Stanford University
state: California
Study officials:
affiliation: Stanford University
name: Daniel Ennis, PhD
role: PRINCIPAL_INVESTIGATOR
References: