Pompe DiseaseDRMFNCT02354664
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
An observational study of Pompe Disease, run by University of Florida at 1 site in United States.
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… Read more about this study
- Who is it for?
- Ages 20 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Pompe Disease
- What is being tested?
- Thoracic MRI, Spirometry and Inspiratory Load Compensation
- How many people
- 14 participants
- Where
- 1 siteUnited States
- Study dates
- Apr 2015to 19 Oct 2016
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 20 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Subjects with late-onset Pompe disease, age 20-65 years, and age and gender-matched unaffected control subjects
Who may be able to join
- Confirmed diagnosis of Pompe disease OR
- Be an age and gender-matched unaffected control subject
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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
- Being tested
- Thoracic MRI, Spirometry, Inspiratory Load Compensation, Maximal Inspiratory Pressure, Resting Breathing Pattern
- Keywords
- respiratory test, respiratory muscle endurance, spirometry
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Thoracic MRIOther
Imaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver.
SpirometryOther
Upright forced vital capacity (FVC)
Inspiratory Load CompensationOther
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 PressureOther
Also called MIP
Measure the maximal airflow on inhalation
Resting Breathing PatternOther
The breathing pattern will be assessed when the subject is seated and in a relaxed state.
Respiratory Muscle Endurance TestOther
Evaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load.
| Study group | Role | What they receive |
|---|---|---|
| Pompe subjects | These subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test. Receives: Other: Thoracic MRI; Other: Spirometry; Other: Inspiratory Load Compensation; Other: Maximal Inspiratory Pressure; Other: Resting Breathing Pattern; Other: 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. Receives: Other: Thoracic MRI; Other: Spirometry; Other: Inspiratory Load Compensation; Other: Maximal Inspiratory Pressure; Other: Resting Breathing Pattern; Other: Respiratory Muscle Endurance Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Day 1
Secondary outcomes (1)
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.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2015 (estimated)
- Study startApr 2015
- Primary completion19 Oct 2016
- Study completion19 Oct 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by University of FloridaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 14 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Responsible party
- Sponsor
- Investigators
- Barbara K. Smith, PT, PhD, Principal investigator, University of Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02354664
- Sponsor's protocol ID
- IRB201400763
- Acronym
- DRMF
- Status last verified
- Jan 2024
- First submitted
- 21 Jan 2015
- Last updated
- 24 Jun 2024
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
- ClinicalTrials.gov ID
- NCT02354664
- Acronym / sponsor ID
- DRMF / IRB201400763
- Conditions
- Pompe Disease
- Keywords
- respiratory test, respiratory muscle endurance, spirometry
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 14 participants (actual)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Collaborators
- BioMarin Pharmaceutical
- Study start
- Apr 2015 (actual)
- Primary completion
- 19 Oct 2016 (actual)
- Study completion
- 19 Oct 2016 (actual)
- First posted
- 3 Feb 2015 (estimated)
- Results
- Posted 24 Jun 2024
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Pompe subjects | – | Other: Thoracic MRI, Other: Spirometry, Other: Inspiratory Load Compensation, Other: Maximal Inspiratory Pressure, Other: Resting Breathing Pattern, Other: Respiratory Muscle Endurance TestThese subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test. |
| Control subjects | – | Other: Thoracic MRI, Other: Spirometry, Other: Inspiratory Load Compensation, Other: Maximal Inspiratory Pressure, Other: Resting Breathing Pattern, Other: Respiratory Muscle Endurance TestThese subjects will receive a thoracic MRI, spirometry, inspiratory load compensation, maximal inspiratory pressure, resting breathing pattern, respiratory muscle endurance test. |
Who may qualify
- Ages
- 20 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Subjects with late-onset Pompe disease, age 20-65 years, and age and gender-matched unaffected control subjects
Key inclusion criteria (2 listed)
- Confirmed diagnosis of Pompe disease OR
- Be an age and gender-matched unaffected control subject
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Thoracic MRIImaging of the diaphragm will be completed during resting breathing, and then during a maximal voluntary ventilation maneuver. | Other | Control subjects, Pompe subjects |
| SpirometryUpright forced vital capacity (FVC) | Other | Control subjects, Pompe subjects |
| Inspiratory Load CompensationA 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 | Control subjects, Pompe subjects |
| Maximal Inspiratory PressureAlso: MIPMeasure the maximal airflow on inhalation | Other | Control subjects, Pompe subjects |
| Resting Breathing PatternThe breathing pattern will be assessed when the subject is seated and in a relaxed state. | Other | Control subjects, Pompe subjects |
| Respiratory Muscle Endurance TestEvaluates the time limit that a participant can maintain ventilation while breathing with a submaximal inspiratory threshold load. | Other | Control subjects, Pompe subjects |
Primary outcome
Inspiratory Load Compensation - Inspiratory Volume
Time frame: 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.
Respiratory Muscle Endurance Task
Time frame: 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.
Inspiratory Load Compensation - Inspiratory Flow
Time frame: 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.
Inspiratory Load Compensation - Inspiratory Time
Time frame: 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.
1 secondary outcome
Thoracic MRI
Time frame: Day 1
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2024.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Barbara K. Smith, PT, PhD principal investigator
University of Florida
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by University of Florida at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Jun 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 24 Jun 2024). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Inspiratory Load Compensation - Inspiratory Volume (time frame: Day 1). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2024.