Clinical trial NCT02354651: Response to Diaphragmatic Pacing in Subjects With Pompe Disease
Official title: Response to Diaphragmatic Pacing in Subjects With Pompe Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pompe Disease
Keywords: Pompe disease
mechanical ventilation
diaphragm pacing
Lead sponsor: University of Florida
Sponsor class: OTHER
Collaborators: name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
First posted: 2015-02-03
Enrollment: 9
Sex: ALL
Minimum age (years): 2
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects with Pompe disease who are eligible for NeuRx DPS implantation

Brief 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 pacer (DPS).

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:

1. Forced expiratory tests
2. Maximal Inspiratory Pressure (MIP)
3. Resting Breathing Pattern
4. Phrenic Nerve Function Evaluation with EMG
5. Severe Respiratory Insufficiency Questionnaire
6. Magnetic stimulation
7. Diaphragm conditioning consisting of:

   1. The external stimulator settings
   2. The duration of diaphragm stimulation
   3. Off-ventilator spontaneous breathing (SB)

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

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

Primary outcomes:
measure: Off-ventilator Spontaneous Breathing (SB) at Baseline and Day 180
timeFrame: Baseline, Day 180
Secondary outcomes:
measure: Maximal Inspiratory Pressure (MIP) at Baseline and Day 180
timeFrame: Baseline, Day 180
measure: Change in Resting Breathing Pattern
timeFrame: Day 180
measure: Diaphragm Electromyogram (EMG) at Day 180
timeFrame: Day 180
Other outcomes:
measure: Hours Per Day of Diaphragm Pacing
timeFrame: 180 days
measure: Magnetic Stimulation
timeFrame: 180 Days
measure: Severe Respiratory Insufficiency Questionnaire
timeFrame: 180 days
measure: Forced Expiratory Flow
timeFrame: 180 days
Locations:
city: Gainesville
country: United States
facility: University of Florida
state: Florida
Study officials:
affiliation: University of Florida
name: Barbara K Smith, PT, PhD
role: PRINCIPAL_INVESTIGATOR
References: