Response to Diaphragmatic Pacing in Subjects With Pompe Disease

University of Florida

Status: Completed

Conditions: Pompe Disease

Treatments: Other: Diaphragm conditioning via phrenic nerve stimulation

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT02354651

IRB201600161-N

1R21HD090752-01 (U.S. NIH Grant/Contract)

003-2013 (Other Identifier)

Details and patient eligibility

About

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).

Full 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)

Enrollment: 9 patients

Sex: All

Ages: 2 to 65 years old

Volunteers: No Healthy Volunteers

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

Trial design

9 participants in 1 patient group

Patients With Pompe Disease Eligible for Diaphragm Pacing

Description:

Patients will receive tests of breathing pattern, phrenic nerve stimulation, maximal inspiratory pressure (MIP), forced expiration, and EMG.

Treatment:

Other: Diaphragm conditioning via phrenic nerve stimulation