The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease

The purpose of the study is to determine if respiratory muscle strength training will be beneficial for inspiratory and expiratory muscle strength in adults and children with Pompe disease.

Study Overview

• Status: Completed
• Conditions: Pompe Disease
• Intervention / Treatment: Other: respiratory muscle strength training

Detailed Description

Respiratory muscle weakness results in substantial morbidity and mortality in individuals with almost all forms of neuromuscular disease (NMD), including both the infantile and adult phenotypes of Pompe disease. Although individual patterns of involvement vary, respiratory weakness in Pompe disease typically affects both the inspiratory and expiratory muscle systems. Our pilot data in two individuals with late-onset Pompe disease suggest that RMST may be a treatment for the progressive respiratory weakness encountered in this condition.

Purpose of the Study

• Determine the effect of respiratory muscle strength training on maximum inspiratory pressure, maximum expiratory pressure, upright % predicted forced vital capacity, and aspects of cough function.
• Determine the effect of RMST on functional outcome measures of gross motor function appropriate for individual participants in terms of age and motor skills.

• Study Type: Observational
• Enrollment (Actual): 11

Contacts and Locations

Study Locations

• United States
  • North Carolina
    • Durham, North Carolina, United States, 27710
      • Duke University Health System

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Adults and children with Pompe disease

Description

Inclusion Criteria:

• include skin fibroblast acid α-glucosidase (GAA) activity ≤1% of the normal mean, a minimum age of 3 years, the ability to participate in an intensive RMST research program, and the ability to maintain a consistent amount of nonresearch related physical activity over the course of the study.

Exclusion Criteria:

• include medical problems which preclude meaningful participation in the study, the inability to perform high effort respiratory tasks using maximum intensity, respiratory weakness so profound that RMST cannot be completed at the minimum pressure thresholds of available respiratory trainers, and the inability to safely perform the protocol. For example, high effort respiratory tasks are occasionally associated with mild, transient dizziness which quickly dissipates following a brief rest. If severe and/or prolonged dizziness were to occur in a particular case, then exclusion from the study would be necessary.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Pompe; Adults and children with Pompe disease.	Other: respiratory muscle strength training

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in maximum inspiratory pressure	change from pre-test to post-test	baseline, week 12

Collaborators and Investigators

• Sponsor: Duke University
• Investigators: Principal Investigator: Harrison Jones, PhD, Duke University

Study record dates

Study Major Dates

• Study Start: December 1, 2010
• Primary Completion (Actual): December 15, 2012
• Study Completion (Actual): December 15, 2012

Study Registration Dates

• First Submitted: October 3, 2012
• First Submitted That Met QC Criteria: October 3, 2012
• First Posted (Estimated): October 4, 2012

Study Record Updates

• Last Update Posted (Actual): May 30, 2023
• Last Update Submitted That Met QC Criteria: May 25, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: Pompe respiratory
• 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; Glycogen Storage Disease Type II
• Other Study ID Numbers: Pro00024468