Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| Genzyme, a Sanofi Company | INDUSTRY |
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Late-Onset Pompe Disease |
| ||
| Acquired/Hereditary Myopathy |
| ||
| Neuropathy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observational study | Other | The following exams will be done in all cohorts: tongue manual muscle testing (MMT), tongue quantitative muscle testing, tongue ultrasound measurements |
| 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.
| Day 1 |
| Maximal lingual (tongue) strength measured via quantitative muscle testing (QMT) measured in kilopascals (KPA) | Day 1 |
| 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 |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Prospective participants must have a confirmed diagnosis of late-onset Pompe Disease, acquired/hereditary myopathy, or neuropathy.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Harrison Jones, PhD | Division of Head and Neck Surgery & Communication Sciences, Duke University Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Duke University Medical Center | Durham | North Carolina | 27710 | United States |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D020140 | Lysosomal Storage Diseases, Nervous System |
Not provided
Not provided
| ID | Term |
|---|---|
| D019370 | Observation |
| ID | Term |
|---|---|
| D008722 | Methods |
| D008919 | Investigative Techniques |
Not provided
Not provided
Not provided
Not provided
Not provided
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 |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |