NCT02354664

Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 14 (actual)
• Sponsor: University of Florida · Academic / Other
• Sex: All
• Age: 20 Years – 65 Years
• Healthy volunteers: Accepted

Summary

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.

Detailed 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).

Conditions

• Pompe Disease

Interventions

Type	Name	Description
OTHER	Thoracic MRI	Imaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver.
OTHER	Spirometry	Upright forced vital capacity (FVC)
OTHER	Inspiratory Load Compensation	A spring-loaded pressure device will resist inspiration. The patient must generate the threshold inspiratory pressure to receive airflow. The changes in breathing timing, flow and volume will be recorded.
OTHER	Maximal Inspiratory Pressure	Measure the maximal airflow on inhalation
OTHER	Resting Breathing Pattern	The breathing pattern will be assessed when the subject is seated and in a relaxed state.
OTHER	Respiratory Muscle Endurance Test	Evaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load.

Timeline

• Start date: 2015-04-01
• Primary completion: 2016-10-19
• Completion: 2016-10-19
• First posted: 2015-02-03
• Last updated: 2024-06-24
• Results posted: 2024-06-24

Locations

1 site across 1 country: United States