Glycogen Storage Disease Type II
Conditions
Brief summary
This study is being done to test the effects of respiratory muscle training (RMT) in patients with late-onset Pompe Disease (LOPD) who have weakness of their breathing muscles. The results of this study will help design future research studies about RMT in LOPD. The goals of this study are to decide if sham-RMT is a useful control condition for RMT and to choose the best ways to measure the health benefits of RMT in LOPD.
Interventions
DEVICERMT therapy using modified RMT device
The exercises provided by the RMT device is intended to strengthen breathing muscles.
DEVICESham-RMT therapy using modified RMT device
The exercises provided by the Sham-RMT modified device is not intended to strengthen breathing muscles.
Sponsors
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Duke University
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SUPPORTIVE_CARE
Masking
DOUBLE (Subject, Investigator)
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Age ≥ 18 years * Diagnosis of LOPD * On enzyme replacement therapy for ≥ 26 weeks at pretest * Able to follow directions for study participation * Able to complete a home-based RMT regimen
Exclusion criteria
* Neurodegenerative conditions (e.g. stroke, dementia) or other serious neurologic condition that would prevent meaningful study participation as determined at the discretion of the principle investigator * Inability to give legally effective consent * Inability to read and understand English
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in respiratory strength | baseline, 12 weeks, 6 months, 9 months | RMT to sham-RMT comparison of maximum inspiratory pressures (MIP). Change pretest to posttest is primary measure (baseline to 12 weeks). |
| Feasibility of sham-RMT, as measured by program adherence | 12 weeks | As measured by program adherence (good is considered greater than or equal to 80%). Helps determines if a future efficacy trial is warranted and if sham-RMT may be a good control condition for a future trial. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in Gait, Stairs, Gower, and Chair (GSGC) scale | baseline, 12 weeks, 6 months, 9 months | Change pretest to posttest |
| Change in peak cough flow (PCF) | baseline, 12 weeks, 6 months, 9 months | Change pretest to posttest |
| Change in maximum expiratory pressures (MEP) | baseline, 12 weeks, 6 months, 9 months | Change pretest to posttest |
| Change in diaphragm thickness | baseline, 12 weeks, 6 months, 9 months | change pretest to posttest |
| Change in Rasch-built Pompe-specific Activity Score (R-PAct) | baseline, 12 weeks, 6 months, 9 months | Change pretest to posttest |
| Change in 6-minute walk test (6MWT) | baseline, 12 weeks, 6 months, 9 months | Change pretest to posttest |
Countries
United States
Outcome results
None listed