Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy

NCT02195999 | Completed

• 1 other identifier: IRB201300420
• Study Type: observational
• Target: 9
• Locations: 1 country
• Sites: 1

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.

Conditions

Muscular Dystrophy, Duchenne

Outcome Measures

Primary Outcomes (1)

• Magnetic Resonance (MRI) T2 and Magnetic Resonance Spectroscopy (MRS)

  The MRI T2 and MRS will be used as a noninvasive marker of myocardial damage/inflammation of participants of this study as an early detection for DMD.

  up to 4 years

Secondary Outcomes (3)

• Pulmonary Function Testing (PFT)

  up to 4 years

• Metabolic Exercise Testing (exercise capacity and MVO2)

  up to 4 years

• Multiple-echo Dixon

  up to 4 years

Study Arms (1)

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.

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

Interventions

Magnetic Resonance Imaging (MRI) OTHER

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

Individuals with DMD

Pulmonary Function Testing (PFT) OTHER

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

Individuals with DMD

Metabolic Exercise Testing using stationary bicycle 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.

Individuals with DMD

Echocardiogram 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.

Also known as: Multiple-echo Dixon

Individuals with DMD

Eligibility Criteria

• Age: 5 Years - 15 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

As the focus of this study is on validating novel measures of cardiac and respiratory function in individuals with DMD, this study will utilize a single-group design with up to 60 males with DMD between 5 and 15 years old upon entry to the study. The participant selection is limited to children since the detrimental effects of DMD begin in early childhood, and the life expectancy of these boys is shortened to the early- to mid-20s. Only males will be eligible to participate in the study because DMD is an X-linked recessive genetic disorder that only leads to the characteristic disease in males. Although females may be carriers, they do not exhibit the same phenotype as males.

You may qualify if:

• Male
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Florida: lead
• CureDuchenne: collaborator

Study Sites (1)

Clinical and Translational Research Building

Gainesville, Florida, 32610, United States

Location

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Interventions

Magnetic Resonance Spectroscopy; Respiratory Physiological Phenomena

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)

Spectrum Analysis; Chemistry Techniques, Analytical; Investigative Techniques; Circulatory and Respiratory Physiological Phenomena

Study Officials

• Barry Byrne, MD, PhD

  University of Florida

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 17, 2014
• First Posted: July 21, 2014
• Study Start: December 1, 2013
• Primary Completion: March 6, 2019
• Study Completion: March 6, 2019
• Last Updated: July 8, 2019

Record last verified: 2019-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)