Respiratory Muscle Training in L-Onset Pompe Disease (LOPD)

Respiratory Muscle Training in Late-Onset Pompe Disease

This study is being done to test the effects of respiratory muscle training (RMT) in patients with late-onset Pompe Disease (LOPD) who have weakness of their breathing muscles. The results of this study will help design future research studies about RMT in LOPD. The goals of this study are to decide if sham-RMT is a useful control condition for RMT and to choose the best ways to measure the health benefits of RMT in LOPD.

Study Overview

• Status: Completed
• Conditions: Glycogen Storage Disease Type II
• Intervention / Treatment: Device: RMT therapy using modified RMT device; Device: Sham-RMT therapy using modified RMT device

• Study Type: Interventional
• Enrollment (Actual): 22
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Duke University Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Age ≥ 18 years
• Diagnosis of LOPD
• On enzyme replacement therapy for ≥ 26 weeks at pretest
• Able to follow directions for study participation
• Able to complete a home-based RMT regimen

Exclusion Criteria:

• Neurodegenerative conditions (e.g. stroke, dementia) or other serious neurologic condition that would prevent meaningful study participation as determined at the discretion of the principle investigator
• Inability to give legally effective consent
• Inability to read and understand English

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Double

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Respiratory muscle training (RMT); Subjects in the experimental arm will be given an inspiratory and expiratory RMT device to use during Duke-based and home-based RMT therapy.	Device: RMT therapy using modified RMT device; The exercises provided by the RMT device is intended to strengthen breathing muscles.
Sham Comparator: Sham-RMT; Subjects in control arm will be given an inspiratory and expiratory sham-device and will complete Duke-based and home-based sham-RMT therapy.	Device: Sham-RMT therapy using modified RMT device; The exercises provided by the Sham-RMT modified device is not intended to strengthen breathing muscles.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in respiratory strength	RMT to sham-RMT comparison of maximum inspiratory pressures (MIP). Change pretest to posttest is primary measure (baseline to 12 weeks).	baseline, 12 weeks, 6 months, 9 months
Feasibility of sham-RMT, as measured by program adherence	As measured by program adherence (good is considered greater than or equal to 80%). Helps determines if a future efficacy trial is warranted and if sham-RMT may be a good control condition for a future trial.	12 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in maximum expiratory pressures (MEP)	Change pretest to posttest	baseline, 12 weeks, 6 months, 9 months
Change in 6-minute walk test (6MWT)	Change pretest to posttest	baseline, 12 weeks, 6 months, 9 months
Change in Gait, Stairs, Gower, and Chair (GSGC) scale	Change pretest to posttest	baseline, 12 weeks, 6 months, 9 months
Change in peak cough flow (PCF)	Change pretest to posttest	baseline, 12 weeks, 6 months, 9 months
Change in Rasch-built Pompe-specific Activity Score (R-PAct)	Change pretest to posttest	baseline, 12 weeks, 6 months, 9 months
Change in diaphragm thickness	change pretest to posttest	baseline, 12 weeks, 6 months, 9 months

Collaborators and Investigators

• Sponsor: Duke University
• Collaborators: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Investigators: Principal Investigator: Harrison Jones, PhD, Division of Head and Neck Surgery & Communication Sciences, Duke University

Publications and helpful links

General Publications

• Jones HN, Kuchibhatla M, Crisp KD, Hobson Webb LD, Case L, Batten MT, Marcus JA, Kravitz RM, Kishnani PS. Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): A protocol for a sham-controlled clinical trial. Mol Genet Metab. 2019 Aug;127(4):346-354. doi: 10.1016/j.ymgme.2019.05.001. Epub 2019 May 8.

Study record dates

Study Major Dates

• Study Start (Actual): February 2, 2017
• Primary Completion (Actual): October 22, 2018
• Study Completion (Actual): April 17, 2019

Study Registration Dates

• First Submitted: June 13, 2016
• First Submitted That Met QC Criteria: June 13, 2016
• First Posted (Estimate): June 16, 2016

Study Record Updates

• Last Update Posted (Actual): July 30, 2019
• Last Update Submitted That Met QC Criteria: July 29, 2019
• Last Verified: July 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease Type II; Glycogen Storage Disease
• Other Study ID Numbers: Pro00068728; 1R21AR069880-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No