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Harrison N Jones1, Maragatha Kuchibhatla2, Kelly D Crisp3

  • 1Department of Surgery, Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center, Durham, NC, USA; Department of Speech Pathology and Audiology, Duke University Medical Center, Durham, NC, USA.

Molecular Genetics and Metabolism
|July 16, 2019
PubMed
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This summary is machine-generated.

This study explores respiratory muscle training for late-onset Pompe disease (LOPD). The trial assesses the feasibility of a sham control and identifies key outcome measures for future respiratory strength and function trials in LOPD patients.

Area of Science:

  • Neurology
  • Pulmonology
  • Rehabilitation Medicine

Background:

  • Late-onset Pompe disease (LOPD) is characterized by progressive respiratory muscle weakness, a primary driver of morbidity and mortality, often persisting despite enzyme replacement therapy (ERT).
  • Respiratory muscle weakness significantly impacts daily activities and overall quality of life in LOPD patients.
  • Novel therapeutic strategies are needed to address respiratory compromise in LOPD.

Purpose of the Study:

  • To evaluate the utility and feasibility of a sham respiratory muscle training (RMT) as a control condition in a randomized controlled trial (RCT) for LOPD.
  • To identify clinically meaningful outcome measures for a future efficacy trial investigating RMT in LOPD.
  • To establish the safety and tolerability of a 12-week RMT program in adults with LOPD.
Keywords:
Late-onset Pompe diseaseMaximum expiratory pressureMaximum inspiratory pressurePompe diseaseRandomized control trialRespiratory muscle training

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Main Methods:

  • An exploratory double-blind, randomized controlled trial (RCT) involving 28 adults with LOPD, randomized 1:1 to RMT or sham-RMT.
  • Comprehensive assessments including primary outcome (maximum inspiratory pressure), secondary outcomes (maximum expiratory pressure, 6-min walk test, etc.), and exploratory measures (polysomnography, patient-reported outcomes, diaphragm ultrasound).
  • Utilizing a novel tool for automated data collection, user feedback, and improved dose control during the RMT program.

Main Results:

  • The study is designed to provide data on the feasibility of sham-RMT and identify optimal outcome measures.
  • Previous findings suggest RMT is safe, well-tolerated, and significantly increases respiratory muscle strength.
  • This trial aims to confirm these preliminary findings and guide future large-scale efficacy studies.

Conclusions:

  • This trial will establish the methodological framework for future RMT efficacy studies in LOPD.
  • Identifying appropriate outcome measures is crucial for demonstrating the clinical benefit of RMT in improving respiratory function and quality of life in LOPD.
  • The findings will inform the design of a definitive RCT to assess the effectiveness of RMT in LOPD management.