Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy (CPI)

University of Florida

Status: Completed

Conditions: Muscular Dystrophy, Duchenne

Treatments: Other: Metabolic Exercise Testing using stationary bicycle; Other: Echocardiogram; Other: Pulmonary Function Testing (PFT); Other: Magnetic Resonance Imaging (MRI)

Study type: Observational

Funder types: Other

Identifiers

NCT02195999

IRB201300420

Details and patient eligibility

About

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.

Full 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.

Enrollment: 9 patients

Sex: Male

Ages: 5 to 15 years old

Volunteers: No Healthy Volunteers

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

Trial design

9 participants in 1 patient group

Individuals with DMD

Description:

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.

Treatment:

Other: Metabolic Exercise Testing using stationary bicycle

Other: Magnetic Resonance Imaging (MRI)

Other: Pulmonary Function Testing (PFT)

Other: Echocardiogram