Response to Diaphragmatic Pacing in Subjects With Pompe Disease

NCT02354651 | Completed Results DMC

• 3 other identifiers: IRB201600161-N003-20131R21HD090752-01
• Study Type: observational
• Target: 9
• Locations: 1 country
• Sites: 1

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).

Conditions

Pompe Disease

Keywords

Pompe disease; mechanical ventilation; diaphragm pacing

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (3)

• Maximal Inspiratory Pressure (MIP) at Baseline and Day 180

  Baseline, Day 180

• Change in Resting Breathing Pattern

  Day 180

• Diaphragm Electromyogram (EMG) at Day 180

  Day 180

Other Outcomes (4)

• Hours Per Day of Diaphragm Pacing

  180 days

• Magnetic Stimulation

  180 Days

• Severe Respiratory Insufficiency Questionnaire

  180 days

Study Arms (1)

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.

Other: Diaphragm conditioning via phrenic nerve stimulation

Interventions

Diaphragm conditioning via phrenic nerve stimulation OTHER

Diaphragm pacing will be prescribed by the patient's clinical team.

Patients With Pompe Disease Eligible for Diaphragm Pacing

Eligibility Criteria

• Age: 2 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with Pompe disease who are eligible for NeuRx DPS implantation

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• University of Florida: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (1)

University of Florida

Gainesville, Florida, 32610, United States

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Limitations and Caveats

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.

Results Point of Contact

• Title: Dr. Barbara Smith
• Organization: University of Florida

bksmith@ufl.edu

3522945315

Study Officials

• Barbara K Smith, PT, PhD

  University of Florida

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 21, 2015
• First Posted: February 3, 2015
• Study Start: May 1, 2013
• Primary Completion: June 1, 2022
• Study Completion: January 1, 2023
• Last Updated: August 1, 2023
• Results First Posted: June 5, 2023

Record last verified: 2023-07

Locations

US (1)