Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

NCT02834650 | Completed DMC

• 2 other identifiers: DMD20161R01HL131975-01
• Study Type: interventional
• Target: 89
• Locations: 1 country
• Sites: 3

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.

Conditions

Muscular Dystrophy, Duchenne

Outcome Measures

Primary Outcomes (3)

• Myocardial Tissue Characterization

  Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility

  6 months

• Myocardial Functional Characterization

  Strain imaging and rotational mechanics

  6 months

• Genomic Analysis

  Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis

  4 years

Study Arms (4)

Group 1a

EXPERIMENTAL

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.

Other: Cardiac MRI without contrast; Other: Repeat MRI scan

Group 1b

EXPERIMENTAL

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.

Other: Cardiac MRI with contrast; Other: Blood Test; Other: Heart Rate; Other: Pulmonary Function Test; Other: Genetic Testing; Other: Repeat MRI scan

Group 2

EXPERIMENTAL

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.

Other: Cardiac MRI with contrast; Other: Blood Test; Other: Heart Rate; Other: Pulmonary Function Test; Other: Genetic Testing; Other: Repeat MRI scan

Group 3

EXPERIMENTAL

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.

Other: Cardiac MRI with contrast; Other: Blood Test; Other: Heart Rate; Other: Pulmonary Function Test; Other: Genetic Testing

Interventions

Cardiac MRI with contrast OTHER

Cardiac MRI

Group 1b; Group 2; Group 3

Cardiac MRI without contrast OTHER

Cardiac MRI

Group 1a

Blood Test OTHER

Hematocrit, Creatinine, Troponin, BNP

Group 1b; Group 2; Group 3

Heart Rate OTHER

Holter Monitor

Group 1b; Group 2; Group 3

Pulmonary Function Test OTHER

Pulmonary Function Test

Group 1b; Group 2; Group 3

Genetic Testing OTHER

Genetic Testing

Group 1b; Group 2; Group 3

Repeat MRI scan OTHER

Repeat MRI scan

Group 1a; Group 1b; Group 2

Eligibility Criteria

• Age: 7 Years - 21 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Stanford University: lead
• National Institutes of Health (NIH): collaborator
• Children's Hospital of Orange County: collaborator
• National Heart, Lung, and Blood Institute (NHLBI): collaborator
• University of California, Los Angeles: collaborator

Study Sites (3)

University of California, Los Angeles

Los Angeles, California, 90024, United States

Location

Children's Hospital of Orange County

Orange, California, 92868, United States

Location

Stanford University

Stanford, California, 94305, United States

Location

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Interventions

Contrast Media; Hematologic Tests; Heart Rate; Respiratory Physiological Phenomena; Genetic Testing

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Diagnostic Uses of Chemicals; Pharmacologic Actions; Chemical Actions and Uses; Specialty Uses of Chemicals; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Vital Signs; Physical Examination; Hemodynamics; Cardiovascular Physiological Phenomena; Circulatory and Respiratory Physiological Phenomena; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Daniel Ennis, PhD

  Stanford University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: July 13, 2016
• First Posted: July 15, 2016
• Study Start: February 1, 2017
• Primary Completion: March 30, 2022
• Study Completion: March 30, 2022
• Last Updated: May 10, 2022

Record last verified: 2022-05

Locations

US (3)