Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 500
- 试验地点
- 14
- 主要终点
- CMT Peds Scale Part 8: Motor Function
研究概览
简要总结
The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
详细描述
This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 21 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients MUST be seen in person at one of the participating centers for enrollment in this study.
- •Children (< 21 years of age)
- •Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4
排除标准
- •Known diagnoses of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory [acute inflammatory demyelinating polyradiculoneuropathy (AIDP) or chronic inflammatory demyelinating polyneuropathy (CIDP)] polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy; and patients with severe general medical conditions.
- •Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.
结局指标
主要结局
CMT Peds Scale Part 8: Motor Function
时间窗: 1 year
Motor function assessment includes long jump, 10 meter run/walk, stair climb, stair descend, and 6 minute walk test.
CMT Peds Scale Part 1: Symptoms
时间窗: 1 year
The CMT Peds Scale Symptoms include foot and hand symptoms.
CMT Peds Score Part 2: Foot and Ankle Involvement
时间窗: 1 year
Foot and ankle involvement includes foot posture index, range of ankle dorsiflexion, foot drop present/absent, and whether or not difficulty heel/toe walking.
CMT Peds Scale Part 3: Hand dexterity
时间窗: 1 year
Hand dexterity involves hand dexterity testing and the nine-hole peg test.
CMT Peds Scale Part 4: Hand strength
时间窗: 1 year
Hand strength includes grip strength, thumb-index pinch, and three point pinch.
CMT Peds Scale Part 5: Foot Strength
时间窗: 1 year
Foot strength includes the strength of plantar- and dorsi-flexion, eversion, and inversion.
CMT Peds Score Part 6: Sensation
时间窗: 1 year
Sensation includes pinprick and vibration sensations.
CMT Peds Scale Part 7: Balance
时间窗: 1 year
Balance is assessed by the Bruininks-Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2).
次要结局
- Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study(6 months to 1 year)