High Dose Inspiratory Muscle Training in LOPD

High-dose Inspiratory Muscle Training (IMT) in Late-onset Pompe Disease (LOPD)

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.

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.

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