Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy

NCT ID: NCT02195999

Last Updated: 2019-07-08

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 9 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2013-12-31
• Study Completion Date: 2019-03-06

Brief Summary

This study seeks to develop and validate non-invasive assessments of cardiac and respiratory muscles with magnetic resonance imaging (MRI) to better predict the natural disease progression of Duchenne muscular dystrophy (DMD) in affected individuals over time, as well as determine whether peripheral skeletal muscle dysfunction can predict cardiopulmonary dysfunction. The central hypothesis is that non-invasive MRI measures of the heart, muscle, and peripheral skeletal muscles can sensitively predict future cardiopulmonary decline.

Detailed Description

Magnetic Resonance Imaging (MRI) of the heart and breathing muscles, special breathing tests (called pulmonary function testing), special exercise tests (using a stationary bike), and possibly an echocardiogram (ultrasound of the heart, commonly known as an "echo") will be completed up to 4 times per year for up to 4 years. Most participants will complete testing once or twice each year; however, some participants will be asked to repeat some of the tests twice during each visit.

Conditions

Muscular Dystrophy, Duchenne

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Individuals with DMD

Magnetic Resonance Imaging is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction.

Pulmonary Function testing (PFT) are a series of non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology.

Metabolic exercise testing using stationary bicycle (exercise capacity and MVO2) evaluates global cardiopulmonary functional status.

Echocardiogram with multiple-echo Dixon method helps to assess cross-sectional and longitudinal variations in myocardial structure.

Magnetic Resonance Imaging (MRI)

Intervention Type: OTHER

It is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction.

Pulmonary Function Testing (PFT)

Intervention Type: OTHER

It is non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology.

Metabolic Exercise Testing using stationary bicycle

Intervention Type: OTHER

Metabolic exercise testing, including assessment of exercise capacity and MVO2, evaluates global cardiopulmonary functional status. This is performed with the use of a stationary bicycle.

Echocardiogram

Intervention Type: OTHER

The echocardiogram performed with the multiple-echo Dixon method helps to assess participants cross-sectionally and longitudinally for variations and changes in myocardial structure.

Interventions

Magnetic Resonance Imaging (MRI)

It is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction.

Intervention Type: OTHER

Pulmonary Function Testing (PFT)

It is non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology.

Intervention Type: OTHER

Metabolic Exercise Testing using stationary bicycle

Metabolic exercise testing, including assessment of exercise capacity and MVO2, evaluates global cardiopulmonary functional status. This is performed with the use of a stationary bicycle.

Intervention Type: OTHER

Echocardiogram

The echocardiogram performed with the multiple-echo Dixon method helps to assess participants cross-sectionally and longitudinally for variations and changes in myocardial structure.

Intervention Type: OTHER

Other Intervention Names

Multiple-echo Dixon

Eligibility Criteria

Inclusion Criteria

• Male
• 5-15 years old at the time of enrollment
• Diagnosed with DMD (as defined by parent project)
• Written parental informed consent (and assent where appropriate) before any study procedures take place

Exclusion Criteria

• Contraindication to an MRI examination
• Presence of a secondary condition that impacts muscle function or metabolism, that leads to developmental delay or impaired motor control, or that is not stable
• Participant is unable to comply with study requirements
• Congenital structural abnormality of the heart, repaired or unrepaired
• Clinically contraindicated participation

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 15 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

CureDuchenne

OTHER

Sponsor Role: collaborator

University of Florida

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Barry Byrne, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Florida

Locations

Clinical and Translational Research Building

Gainesville, Florida, United States

Countries

United States

Other Identifiers

IRB201300420

Identifier Type: -

Identifier Source: org_study_id