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| ID | Type | Description | Link |
|---|---|---|---|
| 003-2013 | Other Identifier | University of Florida pre-conversion | |
| 1R21HD090752-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | NIH |
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The purpose of this study is to determine the effect of diaphragm pacing on respiratory function in subjects with Pompe disease by evaluating the duration and pattern of spontaneous respiratory function versus paced ventilation respiratory function in patients with Pompe disease who have received the NeuDx Diaphragm pacer (DPS).
Subjects with Pompe disease who are scheduled to receive a NeuRx Diaphragm pacer (DPS) will be invited to participate in this study. The following tests will be performed during participation in the study:
Forced expiratory tests
Maximal Inspiratory Pressure (MIP)
Resting Breathing Pattern
Phrenic Nerve Function Evaluation with EMG
Severe Respiratory Insufficiency Questionnaire
Magnetic stimulation
Diaphragm conditioning consisting of:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients With Pompe Disease Eligible for Diaphragm Pacing | Patients will receive tests of breathing pattern, phrenic nerve stimulation, maximal inspiratory pressure (MIP), forced expiration, and EMG. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Diaphragm conditioning via phrenic nerve stimulation | Other | Diaphragm pacing will be prescribed by the patient's clinical team. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Off-ventilator Spontaneous Breathing (SB) at Baseline and Day 180 | The patient will undergo an initial trial of unassisted breathing with the diaphragm pacer turned on. The duration of SB with pacing will be increased to tolerance, using a protocol. If the patient cannot initially complete at least 30-minute bouts of paced SB, then the focus of breathing trials will be to breathe with reduced support from the mechanical ventilator. These measures were generated utilizing ventilator chip data for SB that has been averaged. | Baseline, Day 180 |
| Measure | Description | Time Frame |
|---|---|---|
| Maximal Inspiratory Pressure (MIP) at Baseline and Day 180 | MIP will be measured with a manometer connected to the airway opening of the subject, which occludes the airway and prevents airflow. A nose clip will be used to prevent leakage and the subject is instructed to suck air from the tube with as much force as possible. Measurements will be obtained with the subject sitting upright. Transdiaphragmatic pressure (Pdi) may be calculated with esophageal and gastric manometry during MIP. The measurement will be taken three times and the best value will be reported. |
| Measure | Description | Time Frame |
|---|---|---|
| Hours Per Day of Diaphragm Pacing | Number of hours used per day diaphragm pacing occurred by subjects | 180 days |
| Magnetic Stimulation | EMG response to supramaximal bilateral stimulation of the phrenic nerves. |
Inclusion Criteria:
Exclusion Criteria:
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Subjects with Pompe disease who are eligible for NeuRx DPS implantation
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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 | 32610 | United States |
Subjects were eligible to receive a diaphragmatic pacemaker as part of their clinical care. Some subjects who enrolled decided not to include pacing as part of their clinical care (n=2), or were found to have medical conditions that made them ineligible (n=1).
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| ID | Title | Description |
|---|---|---|
| FG000 | Patients With Pompe Disease Eligible for Diaphragm Pacing | Patients will receive tests of breathing pattern, phrenic nerve stimulation, maximal inspiratory pressure (MIP), forced expiration, and EMG. Diaphragm conditioning via phrenic nerve stimulation: Diaphragm conditioning will be prescribed by the patient's clinical team. |
| Title | Milestones | Reasons Not Completed | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
|
Participants who underwent implantation of a diaphragm pacing system.
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| ID | Title | Description |
|---|---|---|
| BG000 | Pompe Subjects Receiving NeuDx DPS | Patients will receive resting breathing pattern evaluation, phrenic nerve stimulation, maximal inspiratory pressure (MIP) testing, forced expiratory testing, and EMG. Diaphragm conditioning via phrenic nerve stimulation: Diaphragm pacing will be prescribed by the patient's clinical team. |
| 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 | Off-ventilator Spontaneous Breathing (SB) at Baseline and Day 180 | The patient will undergo an initial trial of unassisted breathing with the diaphragm pacer turned on. The duration of SB with pacing will be increased to tolerance, using a protocol. If the patient cannot initially complete at least 30-minute bouts of paced SB, then the focus of breathing trials will be to breathe with reduced support from the mechanical ventilator. These measures were generated utilizing ventilator chip data for SB that has been averaged. | Full sample | Posted | Mean | Full Range | hours per day | Baseline, Day 180 |
|
Longitudinal observational data through January 2019. Post-operative observation time frame ranged from 89 months in subject 1, to 45 months in subject 6..
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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 Receiving NeuRx DPS | Patients will receive resting breathing pattern evaluation, phrenic nerve stimulation, maximal inspiratory pressure (MIP) testing, forced expiratory testing, and EMG. Diaphragm conditioning via phrenic nerve stimulation: Diaphragm pacing will be prescribed by the patient's clinical team. |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Scoliosis requiring spinal fusion | Musculoskeletal and connective tissue disorders | Non-systematic Assessment |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Skin irritation | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
This was a pilot observational study that tracked an unusual clinical intervention in a rare disease; thus, generalizability is difficult to ascertain. Consistent measurement times were difficult to access some patients who resided great distances from the study center.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. Barbara Smith | University of Florida | 3522945315 | bksmith@ufl.edu |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Dec 5, 2016 | Mar 17, 2023 | Prot_000.pdf |
| SAP | No | Yes | No | Statistical Analysis Plan | Feb 15, 2017 | Apr 13, 2023 | SAP_001.pdf |
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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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| Baseline, Day 180 |
| Change in Resting Breathing Pattern | Resting ventilatory flow and timing will be recorded with a pneumotachograph and pressure transducer connected to the airway opening, to calculate minute ventilation. If a patient routinely uses MV throughout the day, the sensing equipment can be placed in series to the breathing tubes. Breathing pattern will be measured for a minimum of ten minutes. | Day 180 |
| Diaphragm Electromyogram (EMG) at Day 180 | This activity reflects the activity of the diaphragm and phrenic nerve. The wires that are implanted for diaphragm pacemaker will be connected to a computer and recording equipment to monitor the activity of the diaphragm muscle during breathing at the lowest level of ventilator assistance. This EMG data is measured in units of microvolts per second and expressed as a percentage of the level of diaphragm EMG activity recorded during MIP maneuvers. | Day 180 |
| 180 Days |
| Severe Respiratory Insufficiency Questionnaire | Patient reported measure of impact of respiratory insufficiency on functional mobility | 180 days |
| Forced Expiratory Flow | Peak expiratory flow obtained during voluntary cough | 180 days |
| Participants |
|
| Age, Continuous | Mean | Full Range | years |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Race (NIH/OMB) | Count of Participants | Participants |
|
| Ventilator-Free Breathing | Hours of daily ventilation unassisted by positive pressure ventilation. | Mean | Full Range | hours of unassisted ventilation per day |
|
|
|
| Secondary | Maximal Inspiratory Pressure (MIP) at Baseline and Day 180 | MIP will be measured with a manometer connected to the airway opening of the subject, which occludes the airway and prevents airflow. A nose clip will be used to prevent leakage and the subject is instructed to suck air from the tube with as much force as possible. Measurements will be obtained with the subject sitting upright. Transdiaphragmatic pressure (Pdi) may be calculated with esophageal and gastric manometry during MIP. The measurement will be taken three times and the best value will be reported. | Subjects 4 and 6 were unavailable for MIP testing at baseline; Subjects 1 and 3 were unavailable for MIP testing at 6 months. | Posted | Mean | Full Range | cm H2O | Baseline, Day 180 |
|
|
|
| Secondary | Change in Resting Breathing Pattern | Resting ventilatory flow and timing will be recorded with a pneumotachograph and pressure transducer connected to the airway opening, to calculate minute ventilation. If a patient routinely uses MV throughout the day, the sensing equipment can be placed in series to the breathing tubes. Breathing pattern will be measured for a minimum of ten minutes. | Minute ventilation during off-ventilator breathing was assessed with and without diaphragm pacing at approximately 6 months post-implant. | Posted | Mean | Standard Deviation | L/min | Day 180 |
|
|
|
| Secondary | Diaphragm Electromyogram (EMG) at Day 180 | This activity reflects the activity of the diaphragm and phrenic nerve. The wires that are implanted for diaphragm pacemaker will be connected to a computer and recording equipment to monitor the activity of the diaphragm muscle during breathing at the lowest level of ventilator assistance. This EMG data is measured in units of microvolts per second and expressed as a percentage of the level of diaphragm EMG activity recorded during MIP maneuvers. | Posted | Mean | Standard Deviation | RMS diaphragm (% of MIP) | Day 180 |
|
|
|
| Other Pre-specified | Hours Per Day of Diaphragm Pacing | Number of hours used per day diaphragm pacing occurred by subjects | Patients with Pompe disease who received diaphragm pacing | Posted | Mean | Full Range | hours per day of diaphragm pacing | 180 days |
|
|
|
| Other Pre-specified | Magnetic Stimulation | EMG response to supramaximal bilateral stimulation of the phrenic nerves. | Magnetic stimulation was used as assessment for determining clinical eligibility for diaphragm pacing. It was not available at follow-up observational visits. | Posted | 180 Days |
|
|
| Other Pre-specified | Severe Respiratory Insufficiency Questionnaire | Patient reported measure of impact of respiratory insufficiency on functional mobility | The Severe Respiratory Insufficiency Questionnaire was validated only in adults. Adults who participated did not complete the questionnaire at Day 180. | Posted | 180 days |
|
|
| Other Pre-specified | Forced Expiratory Flow | Peak expiratory flow obtained during voluntary cough | Only 2 patients were able to complete voluntary cough during a 180-day visit | Posted | Mean | Full Range | L/min | 180 days |
|
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|
| 0 |
| 6 |
| 3 |
| 6 |
| 6 |
| 6 |
| Pneumonia | Respiratory, thoracic and mediastinal disorders | Non-systematic Assessment |
|
| Seizures | Nervous system disorders | Non-systematic Assessment |
|
| Cholecystitis | Hepatobiliary disorders | Non-systematic Assessment |
|
| Respiratory infection | Respiratory, thoracic and mediastinal disorders | Non-systematic Assessment |
|
| Diarrhea | Gastrointestinal disorders | Non-systematic Assessment |
|
| Occipital pressure ulcer | Skin and subcutaneous tissue disorders | Non-systematic Assessment |
|
| Damaged infusion port | Product Issues | Non-systematic Assessment |
|
| Sinusitis | Respiratory, thoracic and mediastinal disorders | Non-systematic Assessment |
|
| Breakage of pacemaker external wires | Product Issues | Non-systematic Assessment |
|
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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 |