Overview
Study Objectives: 1) assess the safety and feasibility of high-dose inspiratory muscle training (IMT) delivered remotely in Late-onset Pompe Disease (LOPD) and 2) determine its effects on respiratory and patient-reported outcomes.
Description
This study aims to develop treatments that enhance respiratory strength and function to provide meaningful clinical improvements for people with LOPD. Identification of a cost-effective adjunctive intervention to address respiratory weakness remains critical to reduce disease burden, ease activity limitations and participation restrictions, and improve health-related quality of life. The proposed study will provide a high-dose inspiratory muscle training (IMT) stimulus to enhance treatment efficacy and efficiency. Our hypothesis is that high-dose IMT is necessary to produce meaningful changes in respiratory muscle strength and other outcomes in participants with LOPD.
Eligibility
Inclusion Criteria:
- Age ≥ 18 years
- Confirmed diagnosis of LOPD
- MIP >50% of predicted for sex and age
- Stable on current Pompe disease treatment regimen >6 months
- Able to follow directions for study participation
- Access to computer and smartphone/tablet with reliable internet connection for video visits and sensor-based respiratory technologies
Exclusion Criteria:
- Presence of medical comorbidities that prevent meaningful study participation (e.g., COPD GOLD III-IV, significant mental illness, dementia)
- Use of continuous invasive or non-invasive ventilation while awake
- Prior history of gene therapy for LOPD
- Inability to give legally effective consent
- Inability to read and understand English