Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

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

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT02834650

Enrollment

Registered

2016-07-15

Start date

2017-02-01

Completion date

2022-03-30

Last updated

2022-05-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Muscular Dystrophy, Duchenne

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.

Interventions

OTHERCardiac MRI with contrast

Cardiac MRI

OTHERCardiac MRI without contrast

Cardiac MRI

OTHERBlood Test

Hematocrit, Creatinine, Troponin, BNP

OTHERHeart Rate

Holter Monitor

OTHERPulmonary Function Test

Pulmonary Function Test

OTHERGenetic Testing

Genetic Testing

OTHERRepeat MRI scan

Repeat MRI scan

Study design

Allocation

NON_RANDOMIZED

Intervention model

SINGLE_GROUP

Primary purpose

BASIC_SCIENCE

Masking

NONE

Eligibility

Sex/Gender

MALE

Age

7 Years to 21 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

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

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026