Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

Pompe Disease Clinical Trial

— DRMF  

Official title:

Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02354664
• Other study ID #: IRB201400763
• Status: Completed
• Start date: April 2015
• Est. completion date: October 19, 2016

Study information

• Verified date: June 2021
• Source: University of Florida
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 14
• Est. completion date: October 19, 2016
• Est. primary completion date: October 19, 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 20 Years to 60 Years

Eligibility

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

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease

Intervention

Other:
• Thoracic MRI
Imaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver.
• Spirometry
Upright forced vital capacity (FVC)
• 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.
• Maximal Inspiratory Pressure
Measure the maximal airflow on inhalation
• Resting Breathing Pattern
The breathing pattern will be assessed when the subject is seated and in a relaxed state.
• Respiratory Muscle Endurance Test
Evaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load.

Locations

Country	Name	City	State
United States	University of Florida	Gainesville	Florida

Sponsors (2)

Lead Sponsor	Collaborator
University of Florida	BioMarin Pharmaceutical

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Inspiratory load compensation	Peak inspiratory flow, inspiratory volume, and duty cycle of loaded breaths will be measured	Day 1
Primary	Respiratory muscle endurance task	Time and load associated with endurance task failure will be measured.	Day 2
Primary	Inspiratory load Compensation	Peak inspiratory flow, inspiratory volume, and duty cycle of loaded breaths will be measured	Day 2
Secondary	Thoracic MRI	Chest wall and diaphragmatic motions will be measured in three planes with dynamic magnetic resonance imaging (MRI). The change in diaphragm excursion between full inspiration and full expiration will be measured in the frontal plane, and change in the area of the right and left sides of the chest cavity will be measured in the sagittal plane. Diaphragm and chest excursion will be recorded dynamically during 30-second periods of resting breathing and deep breathing.	Day 1