Trial Outcomes & Findings for Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease (NCT NCT02354664)

Results Overview

For ILC testing, a commercially available, spring-loaded device provided a pressure load to inspiration that is independent of inspiratory flow. The patient had to generate enough threshold inspiratory pressure in order to receive airflow. The tension of the spring was adjusted to regulate the threshold pressure of the imposed load. Volume, flow and timing responses were evaluated to an inspiratory threshold load equivalent to 40% of PImax.

Recruitment status

COMPLETED

Target enrollment

14 participants

Primary outcome timeframe

Day 1

Results posted on

2024-06-24

Participant Flow

Participant milestones

Participant milestones
Measure	Pompe Subjects Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects Participants were between the ages of 20-65 years and were healthy adults.
Overall Study STARTED	7	7
Overall Study COMPLETED	7	7
Overall Study NOT COMPLETED	0	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Race and Ethnicity were not collected from any participant.

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Pompe Subjects n=7 Participants Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects n=7 Participants Participants were between the ages of 20-65 years and were healthy adults.	Total n=14 Participants Total of all reporting groups
Age, Categorical <=18 years	0 Participants n=7 Participants	0 Participants n=7 Participants	0 Participants n=14 Participants
Age, Categorical Between 18 and 65 years	7 Participants n=7 Participants	7 Participants n=7 Participants	14 Participants n=14 Participants
Age, Categorical >=65 years	0 Participants n=7 Participants	0 Participants n=7 Participants	0 Participants n=14 Participants
Age, Continuous	43.6 years STANDARD_DEVIATION 12.8 • n=7 Participants	42.6 years STANDARD_DEVIATION 15.7 • n=7 Participants	43.1 years STANDARD_DEVIATION 13.7 • n=14 Participants
Sex: Female, Male Female	5 Participants n=7 Participants	5 Participants n=7 Participants	10 Participants n=14 Participants
Sex: Female, Male Male	2 Participants n=7 Participants	2 Participants n=7 Participants	4 Participants n=14 Participants
Race and Ethnicity Not Collected	—	—	0 Participants Race and Ethnicity were not collected from any participant.
Region of Enrollment United States	7 Participants n=7 Participants	7 Participants n=7 Participants	14 Participants n=14 Participants
Forced vital capacity	59 % predicted STANDARD_DEVIATION 22 • n=7 Participants	110 % predicted STANDARD_DEVIATION 45 • n=7 Participants	84 % predicted STANDARD_DEVIATION 34 • n=14 Participants
Maximal Inspiratory Pressure	59 cm H2O STANDARD_DEVIATION 20 • n=7 Participants	95 cm H2O STANDARD_DEVIATION 111 • n=7 Participants	77 cm H2O STANDARD_DEVIATION 32 • n=14 Participants

PRIMARY outcome

Timeframe: Day 1

For ILC testing, a commercially available, spring-loaded device provided a pressure load to inspiration that is independent of inspiratory flow. The patient had to generate enough threshold inspiratory pressure in order to receive airflow. The tension of the spring was adjusted to regulate the threshold pressure of the imposed load. Volume, flow and timing responses were evaluated to an inspiratory threshold load equivalent to 40% of PImax.

Outcome measures

Outcome measures
Measure	Pompe Subjects n=7 Participants Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects n=7 Participants Participants were between the ages of 20-65 years and were healthy adults.
Inspiratory Load Compensation - Inspiratory Volume Inspiratory Volume - Loaded	288.41 mL Standard Deviation 136.77	554.34 mL Standard Deviation 550.26
Inspiratory Load Compensation - Inspiratory Volume Inspiratory Volume - Unloaded	743.71 mL Standard Deviation 145.42	927.57 mL Standard Deviation 352.09

PRIMARY outcome

Timeframe: Day 2

Endurance was evaluated by identifying the time limit (Tlim) that a participant could maintain ventilation while breathing with a submaximal inspiratory threshold load. The test begin after a one-hour rest. After reaching a steady state breathing pattern (e.g. stable tidal volumes for \>30 seconds), a threshold inspiratory load equivalent to 40% of PIMAX was placed on the inspiratory port of the mouthpiece. During the loaded breathing condition, the respiratory rate was set to each subject's self-selected resting breathing rate. The perceived exertion was monitored, and subjects received encouragement to maintain the target rate and mouth pressure. Encouragement was provided to maintain the established breathing pattern and to continue to task failure. The test ended when the subject could not open the threshold valve for three consecutive breaths.

Outcome measures

Outcome measures
Measure	Pompe Subjects n=7 Participants Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects n=7 Participants Participants were between the ages of 20-65 years and were healthy adults.
Respiratory Muscle Endurance Task	2.9 minutes Standard Deviation 2.8	7.7 minutes Standard Deviation 3.1

PRIMARY outcome

Timeframe: Day 1

For ILC testing, a commercially available, spring-loaded device provided a pressure load to inspiration that is independent of inspiratory flow. The patient had to generate enough threshold inspiratory pressure in order to receive airflow. The tension of the spring was adjusted to regulate the threshold pressure of the imposed load. Volume, flow and timing responses were evaluated to an inspiratory threshold load equivalent to 40% of PImax.

Outcome measures

Outcome measures
Measure	Pompe Subjects n=7 Participants Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects n=7 Participants Participants were between the ages of 20-65 years and were healthy adults.
Inspiratory Load Compensation - Inspiratory Flow Inspiratory Flow - Loaded	18.57 L/min Standard Deviation 12.52	21.62 L/min Standard Deviation 20.09
Inspiratory Load Compensation - Inspiratory Flow Inspiratory Flow - Unloaded	47.05 L/min Standard Deviation 6.40	42.50 L/min Standard Deviation 8.82

PRIMARY outcome

Timeframe: Day 1

For ILC testing, a commercially available, spring-loaded device provided a pressure load to inspiration that is independent of inspiratory flow. The patient had to generate enough threshold inspiratory pressure in order to receive airflow. The tension of the spring was adjusted to regulate the threshold pressure of the imposed load. Volume, flow and timing responses were evaluated to an inspiratory threshold load equivalent to 40% of PImax.

Outcome measures

Outcome measures
Measure	Pompe Subjects n=7 Participants Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects n=7 Participants Participants were between the ages of 20-65 years and were healthy adults.
Inspiratory Load Compensation - Inspiratory Time Inspiratory Time - Loaded	1.76 seconds Standard Deviation 0.55	3.80 seconds Standard Deviation 3.91
Inspiratory Load Compensation - Inspiratory Time Inspiratory Time - Unloaded	1.41 seconds Standard Deviation 0.27	1.93 seconds Standard Deviation 0.79

SECONDARY outcome

Timeframe: Day 1

Chest wall and diaphragmatic motions was measured in three planes with dynamic magnetic resonance imaging (MRI). The cradio-caudal change in diaphragm excursion between full inspiration and full expiration (representing diaphragm descent) was measured in the frontal plane. The anterior-posterior change in the area of the right and left sides of the chest cavity was measured in the sagittal plane (representing chest expansion). Diaphragm and chest excursion was recorded dynamically during 30-second periods of resting breathing and deep breathing.

Outcome measures

Outcome measures
Measure	Pompe Subjects n=7 Participants Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects n=7 Participants Participants were between the ages of 20-65 years and were healthy adults.
Thoracic MRI Tidal Breathing - Cranio-Caudal Excursion	0.85 cm Standard Deviation 0.76	1.88 cm Standard Deviation 0.71
Thoracic MRI Tidal Breathing - Anterior-Posterior Excursion	0.54 cm Standard Deviation 0.47	0.58 cm Standard Deviation 0.8
Thoracic MRI Inspiratory Capacity - Cranio-Caudal Excursion	1.93 cm Standard Deviation 2.38	5.77 cm Standard Deviation 1.2
Thoracic MRI Inspiratory Capacity - Anterior-Posterior Excursion	1.55 cm Standard Deviation 1.11	1.79 cm Standard Deviation 1.94

Adverse Events

Pompe Subjects

Serious events: 0 serious events

Other events: 1 other events

Deaths: 0 deaths

Control Subjects

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Pompe Subjects n=7 participants at risk Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease.	Control Subjects n=7 participants at risk Participants were between the ages of 20-65 years and were healthy adults.
Respiratory, thoracic and mediastinal disorders Muscle soreness	14.3% 1/7 • Number of events 1	0.00% 0/7

Additional Information

Barbara Smith, Assistant Professor

University of Florida

Phone: 352-294-5315

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place