Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease (DRMF)

University of Florida

Status: Completed

Conditions: Pompe Disease

Treatments: Other: Inspiratory Load Compensation; Other: Resting Breathing Pattern; Other: Maximal Inspiratory Pressure; Other: Thoracic MRI; Other: Spirometry; Other: Respiratory Muscle Endurance Test

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT02354664

IRB201400763

Details and patient eligibility

About

This study intends to evaluate dynamic respiratory motor performance as a valuable measure of pulmonary function in adults with late-onset Pompe disease. The investigators will adopt a strategy that includes comprehensive evaluations of respiratory volume, flow, and timing parameters during resting and loaded breathing. These evaluations will then be associated to the standard clinical measure of maximal inspiratory pressure, the static inspiratory muscle function, as well as magnetic resonance imaging of thoracic expansion and diaphragmatic descent at rest and with exertion. Outcomes in participants with late-onset Pompe disease will be contrasted to the function of age- and gender-matched control subjects. This approach will enable the investigators to evaluate the relationship between dynamic diaphragmatic function and respiratory motor function.

Full description

The following tests will be completed over a two-day period: Respiratory pressure tests, breathing test, magnetic resonance imaging and magnetic resonance spectroscopy (MRI and MRS).

Enrollment: 14 patients

Sex: All

Ages: 20 to 65 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Confirmed diagnosis of Pompe disease OR
• Be an age and gender-matched unaffected control subject

Exclusion criteria

• Pre-existing obstructive lung disease or asthma
• Forced vital capacity (FVC) <30% or >80% of age/gender predicted values
• Inability to travel to the study site
• Requirement for positive pressure ventilator support when awake and upright
• Participation in longitudinal studies that may independently alter lung function
• Presence of any other chronic medical condition that, in the opinion of the investigator, would make the subject unsuitable for the study

Trial design

14 participants in 2 patient groups

Pompe subjects

Description:

These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test.

Treatment:

Other: Respiratory Muscle Endurance Test

Other: Spirometry

Other: Thoracic MRI

Other: Maximal Inspiratory Pressure

Other: Resting Breathing Pattern

Other: Inspiratory Load Compensation

Control subjects

Description:

These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test.

Treatment:

Other: Respiratory Muscle Endurance Test

Other: Spirometry

Other: Thoracic MRI

Other: Maximal Inspiratory Pressure

Other: Resting Breathing Pattern

Other: Inspiratory Load Compensation