Determining the Diagnostic Utility of the Identification of Tongue Involvement in Late-Onset Pompe Disease (LOPD)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 73
- 试验地点
- 1
- 主要终点
- Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description)
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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)
排除标准
- •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
结局指标
主要结局
Maximal lingual (tongue) strength measured via manual muscle testing (MMT) measured via ordinal scale (see description)
时间窗: 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)
时间窗: Day 1
次要结局
- Maximal muscle thickness measured with ultrasound assessment in millimeters (mm)(Day 1)
- Echo intensity measured with ultrasound assessment utilizing grayscale analysis(Day 1)