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| Name | Class |
|---|---|
| BioMarin Pharmaceutical | INDUSTRY |
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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.
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).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pompe subjects | These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test. |
| |
| Control subjects | These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Thoracic MRI | Other | Imaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Inspiratory Load Compensation - Inspiratory Volume | 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. | Day 1 |
| Respiratory Muscle Endurance Task | 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. | Day 2 |
| Inspiratory Load Compensation - Inspiratory Flow | 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. | Day 1 |
| Inspiratory Load Compensation - Inspiratory Time | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Thoracic MRI | 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. |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects with late-onset Pompe disease, age 20-65 years, and age and gender-matched unaffected control subjects
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| Name | Affiliation | Role |
|---|---|---|
| Barbara K. Smith, PT, PhD | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Florida | Gainesville | Florida | 32606 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Pompe Subjects | Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease. |
| FG001 | Control Subjects | Participants were between the ages of 20-65 years and were healthy adults. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Pompe Subjects | Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease. |
| BG001 | Control Subjects | Participants were between the ages of 20-65 years and were healthy adults. |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Inspiratory Load Compensation - Inspiratory Volume | 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. | Posted | Mean | Standard Deviation | mL | Day 1 |
|
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Pompe Subjects | Participants were between the ages of 20-65 years with a confirmed diagnosis of Pompe disease. |
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| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Muscle soreness | Respiratory, thoracic and mediastinal disorders | Systematic Assessment | Chest muscle soreness |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Barbara Smith, Assistant Professor | University of Florida | 352-294-5315 | bksmith@phhp.ufl.edu |
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| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
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| Spirometry | Other | Upright forced vital capacity (FVC) |
|
| Inspiratory Load Compensation | Other | 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 | Other | Measure the maximal airflow on inhalation |
|
|
| Resting Breathing Pattern | Other | The breathing pattern will be assessed when the subject is seated and in a relaxed state. |
|
| Respiratory Muscle Endurance Test | Other | Evaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load. |
|
| Day 1 |
| Day 1 |
| BG002 | Total | Total of all reporting groups |
| Participants |
|
| Age, Continuous | Mean | Standard Deviation | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Race and Ethnicity Not Collected | Race and Ethnicity were not collected from any participant. | Count of Participants | Participants |
|
| Region of Enrollment | Count of Participants | Participants |
|
| Forced vital capacity | Mean | Standard Deviation | % predicted |
|
| Maximal Inspiratory Pressure | Mean | Standard Deviation | cm H2O |
|
Participants were between the ages of 20-65 years and were healthy adults.
|
|
| Primary | Respiratory Muscle Endurance Task | 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. | Posted | Mean | Standard Deviation | minutes | Day 2 |
|
|
|
| Secondary | Thoracic MRI | 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. | Posted | Mean | Standard Deviation | cm | Day 1 |
|
|
|
| Primary | Inspiratory Load Compensation - Inspiratory Flow | 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. | Posted | Mean | Standard Deviation | L/min | Day 1 |
|
|
|
| Primary | Inspiratory Load Compensation - Inspiratory Time | 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. | Posted | Mean | Standard Deviation | seconds | Day 1 |
|
|
|
| 0 |
| 7 |
| 1 |
| 7 |
| EG001 | Control Subjects | Participants were between the ages of 20-65 years and were healthy adults. | 0 | 7 | 0 | 7 |
|
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| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| Inspiratory Capacity - Cranio-Caudal Excursion |
|
| Inspiratory Capacity - Anterior-Posterior Excursion |
|