Pompe DiseaseNCT02354651

Response to Diaphragmatic Pacing in Subjects With Pompe Disease

An observational study of Pompe Disease, run by University of Florida at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Trial summary

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… Read more about this study

Who is it for?: Ages 2 to 65 years
Conditions the study is for: Pompe Disease
What is being tested?: Diaphragm conditioning via phrenic nerve stimulation
How many people: 9 participants
Where: 1 siteUnited States
Study dates: May 2013to Jan 2023
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 2 to 65 years
All sexes
No healthy volunteers
Child, Adult, Older adult

Study population: Subjects with Pompe disease who are eligible for NeuRx DPS implantation

Who may be able to join

Diagnosis of Pompe disease as defined by mutational analysis, GAA enzyme activity assay in blood spot, and/or fibroblast culture less than 40% of control value
Medically and functionally eligible for NeuRx DPS implantation, as determined by a clinical surgical evaluation. The surgeon will determine eligibility through pulmonary function tests, ability to stimulate your diaphragm, and arterial blood gas levels. Eligibility may also be determined by your response to traditional respiratory strengthening exercises without a pacemaker.
History of mechanical ventilation dependence (six or more hours of invasive or non-invasive mechanical ventilation support daily for at least 21 days in duration

Who cannot join

Current participation in another treatment study (other than enzyme replacement therapy) directed at improving diaphragm function
Unable to complete pulmonary function testing

Trial locations and contacts

1 site in 1 country.

United States1 site

University of Florida
Gainesville, Florida, 32610

Other trials in United States

About this study

Read the detailed description

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:
The external stimulator settings
The duration of diaphragm stimulation
Off-ventilator spontaneous breathing (SB)

Conditions: Pompe Disease
Being tested: Diaphragm conditioning via phrenic nerve stimulation
Keywords: Pompe disease, mechanical ventilation, diaphragm pacing
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.

Diaphragm conditioning via phrenic nerve stimulationOther
Diaphragm pacing will be prescribed by the patient's clinical team.

Study groups in NCT02354651
Study group	Role	What they receive
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. Receives: Other: Diaphragm conditioning via phrenic nerve stimulation

What is being measured

The primary outcome is the main question the study is designed to answer.

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.
Measured: Baseline, Day 180

Secondary outcomes (3)

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.
Measured: 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.
Measured: 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.
Measured: Day 180

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

May 2013Jan 2023

First posted3 Feb 2015 (estimated)
Study startMay 2013
Primary completionJun 2022
Study completionJan 2023

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: Cohort
Time perspective: Prospective
Enrolment: 9 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT02354651
Sponsor's protocol ID: IRB201600161-N
Other IDs: 003-2013, 1R21HD090752-01
Status last verified: Jul 2023
First submitted: 21 Jan 2015
Last updated: 1 Aug 2023
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: Yes

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Not yet recruitingObservational study
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
Not yet recruitingPhase 2
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
Pompe Disease

All Pompe Disease trials

Study at a glance

From the registry record, last updated by the sponsor on 1 Aug 2023. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Response to Diaphragmatic Pacing in Subjects With Pompe Disease
ClinicalTrials.gov ID: NCT02354651
Acronym / sponsor ID: IRB201600161-N
Conditions: Pompe Disease
Keywords: Pompe disease, mechanical ventilation, diaphragm pacing
Study type: Observational
Recruitment status: Completed
Enrolment: 9 participants (actual)
Lead sponsor: University of FloridaUniversity, hospital or other
Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study start: May 2013
Primary completion: Jun 2022 (actual)
Study completion: Jan 2023 (actual)
First posted: 3 Feb 2015 (estimated)
Results: Posted 5 Jun 2023

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

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:
The external stimulator settings
The duration of diaphragm stimulation
Off-ventilator spontaneous breathing (SB)

Study design

Observational model: Cohort
Time perspective: Prospective
Number of arms: 1

Arm	Type	Receives
Patients With Pompe Disease Eligible for Diaphragm Pacing	–	Other: Diaphragm conditioning via phrenic nerve stimulationPatients will receive tests of breathing pattern, phrenic nerve stimulation, maximal inspiratory pressure (MIP), forced expiration, and EMG.

Who may qualify

Ages: 2 to 65 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child, Adult, Older adult
Study population: Subjects with Pompe disease who are eligible for NeuRx DPS implantation

Key inclusion criteria (3 listed)

Diagnosis of Pompe disease as defined by mutational analysis, GAA enzyme activity assay in blood spot, and/or fibroblast culture less than 40% of control value
Medically and functionally eligible for NeuRx DPS implantation, as determined by a clinical surgical evaluation. The surgeon will determine eligibility through pulmonary function tests, ability to stimulate your diaphragm, and arterial blood gas levels. Eligibility may also be determined by your response to traditional respiratory strengthening exercises without a pacemaker.
History of mechanical ventilation dependence (six or more hours of invasive or non-invasive mechanical ventilation support daily for at least 21 days in duration

Key exclusion criteria (2 listed)

Current participation in another treatment study (other than enzyme replacement therapy) directed at improving diaphragm function
Unable to complete pulmonary function testing

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
Diaphragm conditioning via phrenic nerve stimulationDiaphragm pacing will be prescribed by the patient's clinical team.	Other	Patients With Pompe Disease Eligible for Diaphragm Pacing

Primary outcome

Off-ventilator Spontaneous Breathing (SB) at Baseline and Day 180
Time frame: Baseline, 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.

3 secondary outcomes

Maximal Inspiratory Pressure (MIP) at Baseline and Day 180
Time frame: Baseline, Day 180
Change in Resting Breathing Pattern
Time frame: Day 180
Diaphragm Electromyogram (EMG) at Day 180
Time frame: Day 180

Results and safety

Results posted to the registry on 5 Jun 2023, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
Patients With Pompe Disease Eligible for Diaphragm Pacing	9	6

Primary outcome: Off-ventilator Spontaneous Breathing (SB) at Baseline and Day 180

Time frame: Baseline, Day 180. Mean (Full Range). Unit: hours per day

Measure	Pompe Subjects Receiving NeuRx DPS n = 6
Baseline	0.52 (0 to 1.5)
Day 180	4.72 (.04 to 12)

Population analysed: Full sample

3 secondary outcomes are reported in the full results.

Adverse events

Time frame: Longitudinal observational data through January 2019. Post-operative observation time frame ranged from 89 months in subject 1, to 45 months in subject 6... Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
Pompe Subjects Receiving NeuRx DPS	3 of 6 (50%)	6 of 6 (100%)	0 of 6

Limitations and caveats (from the sponsor): 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.

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 1 Aug 2023.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.

Related trials for Pompe Disease

Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Not yet recruitingObservational study
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
Not yet recruitingPhase 2
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
Pompe Disease

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 3 inclusion and 2 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 1 Aug 2023. 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 5 Jun 2023). 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?

Off-ventilator Spontaneous Breathing (SB) at Baseline and Day 180 (time frame: Baseline, Day 180). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT02354651.

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 1 Aug 2023.