Identification of Tongue Involvement in Late-Onset Pompe Disease

Study Overview
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Brief Summary
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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.

Official Title
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Determining the Diagnostic Utility of the Identification of Tongue Involvement in Late-Onset Pompe Disease (LOPD)

Conditions
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Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)

Intervention / Treatment
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* Other: Observational study


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 12 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Late-Onset Pompe Disease<br> | Other: Observational study<br>* The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements<br>|
| Acquired/Hereditary Myopathy<br> | Other: Observational study<br>* The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements<br>|
| Neuropathy<br> | Other: Observational study<br>* The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description) | Lingual strength will be rated with a validated 0-4 ordinal scale. Score Description 0 - Normal strength, no weakness. - Mild weakness. The tongue can be overcome with effort. - Moderate weakness. Easy to overcome. - Minimal movement. Unable to protrude to either side. - No movement detected. | Day 1 | 
| Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA) |  | Day 1 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Maximal muscle thickness measured with ultrasound assessment in millimeters (mm) | Comprises part of assessment of lingual (tongue) structure via qualitative tongue ultrasound assessment. On-screen calipers will be used to perform measurement. | Day 1 | 
| Echo intensity measured with ultrasound assessment utilizing grayscale analysis | 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). | Day 1 |