Glycogen Storage Disease Type II (Late-onset Pompe Disease), Myopathy, Neuropathy
Conditions
Brief summary
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or neuropathies. It is hypothesized that abnormalities in tongue function and structure in patients with LOPD may be useful in discriminating this condition from others that have similar presentations.
Interventions
OTHERObservational study
The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements
Sponsors
Genzyme, a Sanofi Company
Duke University
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
12 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* age ≥ 12 years * confirmed diagnosis of LOPD and naïve to enzyme-replacement therapy (ERT) * acquired/hereditary myopathy (e.g., dermatomyositis, polymyositis, inclusion body myositis, limb-girdle muscular dystrophy, distal myopathy, myotonic muscular dystrophy, and other myopathy) * neuropathy (e.g., peripheral neuropathy, cranial neuropathy, autonomic neuropathy, focal neuropathy)
Exclusion criteria
* current use, history within the past two years of use, or eligible but declined use of Lumizyme® enzyme replacement therapy (applicable to LOPD group) * history of stroke, Parkinson's disease, oculopharyngeal muscular dystrophy, head and neck cancer or radiation treatment to head/neck, or other conditions that commonly affect lingual strength * inability to follow directions for study participation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description) | Day 1 | Lingual strength will be rated with a validated 0-4 ordinal scale. Score Description 0 - Normal strength, no weakness. 1. \- Mild weakness. The tongue can be overcome with effort. 2. \- Moderate weakness. Easy to overcome. 3. \- Minimal movement. Unable to protrude to either side. 4. \- No movement detected. |
| Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA) | Day 1 | — |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Maximal muscle thickness measured with ultrasound assessment in millimeters (mm) | Day 1 | Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. On-screen calipers will be used to perform measurement. |
| Echo intensity measured with ultrasound assessment utilizing grayscale analysis | Day 1 | Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. Echo intensity measurements consist of drawing a box over subcutaneous tissue and muscle areas of interest using the grayscale histogram function. This number will be recorded along with the standard deviation (grayscale analysis). |
Countries
United States
Outcome results
None listed