Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

Muscular Dystrophy, Duchenne Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02834650
• Other study ID #: DMD2016
• Secondary ID: 1R01HL131975-01
• Status: Completed
• Phase: N/A
• Start date: February 1, 2017
• Est. completion date: March 30, 2022

Study information

• Verified date: May 2022
• Source: Stanford University
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 89
• Est. completion date: March 30, 2022
• Est. primary completion date: March 30, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Male
• Age group: 7 Years to 21 Years

Eligibility

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

Related Conditions & MeSH terms

• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Intervention

Other:
• Cardiac MRI with contrast
Cardiac MRI
• Cardiac MRI without contrast
Cardiac MRI
• Blood Test
Hematocrit, Creatinine, Troponin, BNP
• Heart Rate
Holter Monitor
• Pulmonary Function Test
Pulmonary Function Test
• Genetic Testing
Genetic Testing
• Repeat MRI scan
Repeat MRI scan

Locations

Country	Name	City	State
United States	University of California, Los Angeles	Los Angeles	California
United States	Children's Hospital of Orange County	Orange	California
United States	Stanford University	Stanford	California

Sponsors (5)

Lead Sponsor	Collaborator
Stanford University	Children's Hospital of Orange County, National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), University of California, Los Angeles

Country where clinical trial is conducted

United States, 

Outcome

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