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

• ClinicalTrials.gov Identifier: NCT01701154
• Recruitment Status: Completed
• First Posted: October 4, 2012
• Last Update Posted: January 17, 2013
• Sponsor: Duke University
• Information provided by (Responsible Party): Duke University

Study Description

Brief Summary:

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.

Condition or disease	Intervention/treatment
Pompe Disease	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 Design

• Study Type: Observational
• Actual Enrollment: 11 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease
• Study Start Date: December 2010
• Actual Primary Completion Date: December 2012
• Actual Study Completion Date: December 2012

Groups and Cohorts

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

Outcome Measures

Eligibility Criteria

• Ages Eligible for Study: 3 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Adults and children with Pompe disease

Criteria

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.

Contacts and Locations

Locations

United States, North Carolina

Duke University Health System

Durham, North Carolina, United States, 27710

Sponsors and Collaborators

Duke University

Investigators

• Principal Investigator: Harrison Jones, PhD; Duke University

More Information

• Responsible Party: Duke University
• ClinicalTrials.gov Identifier: NCT01701154
• Other Study ID Numbers: Pro00024468
• First Posted: October 4, 2012
• Last Update Posted: January 17, 2013
• Last Verified: October 2012

Keywords provided by Duke University:

Pompe respiratory

Additional relevant MeSH terms:

Glycogen Storage Disease Type II; 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; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases