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Trial record 24 of 103 for:    Pompe Disease

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

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ClinicalTrials.gov Identifier: NCT02354664
Recruitment Status : Recruiting
First Posted : February 3, 2015
Last Update Posted : December 4, 2018
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
University of Florida

Brief 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.

Condition or disease Intervention/treatment
Pompe Disease Other: Thoracic MRI Other: Spirometry Other: Inspiratory Load Compensation Other: Maximal Inspiratory Pressure Other: Resting Breathing Pattern Other: Respiratory Muscle Endurance Test

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).

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Study Type : Observational
Estimated Enrollment : 19 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
Actual Study Start Date : April 2015
Estimated Primary Completion Date : December 2019
Estimated Study Completion Date : December 2019


Group/Cohort Intervention/treatment
Pompe subjects
These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test.
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 Name: MIP

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.

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

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.




Primary Outcome Measures :
  1. Inspiratory load compensation [ Time Frame: Day 1 ]
    Peak inspiratory flow, inspiratory volume, and duty cycle of loaded breaths will be measured

  2. Respiratory muscle endurance task [ Time Frame: Day 2 ]
    Time and load associated with endurance task failure will be measured.

  3. Inspiratory load Compensation [ Time Frame: Day 2 ]
    Peak inspiratory flow, inspiratory volume, and duty cycle of loaded breaths will be measured


Secondary Outcome Measures :
  1. Thoracic MRI [ Time Frame: Day 1 ]
    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.



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Ages Eligible for Study:   20 Years to 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Subjects with late-onset Pompe disease, age 20-60 years, and age and gender-matched unaffected control subjects
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02354664


Contacts
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Contact: Barbara K. Smith, PT, PhD 352-294-5315 bksmith@phhp.ufl.edu

Locations
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United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32606
Contact: Lee Kugelmann    352-273-6855    ekugelm@ufl.edu   
Sponsors and Collaborators
University of Florida
BioMarin Pharmaceutical
Investigators
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Principal Investigator: Barbara K. Smith, PT, PhD University of Florida

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Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT02354664     History of Changes
Other Study ID Numbers: IRB201400763
First Posted: February 3, 2015    Key Record Dates
Last Update Posted: December 4, 2018
Last Verified: December 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University of Florida:
respiratory test
respiratory muscle endurance
spirometry

Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors