Pain in RASopathies: New Investigative Techniques and Possible Treatments
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 150
- 试验地点
- 2
- 主要终点
- Prevalence of pain in verbal patients with RASopathies
研究概览
简要总结
RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals.
详细描述
To detect prevalence and characteristics of pain in RASopathies by using scales, questionnaires, biochemical analysis and neurophysiological assessment tests.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •All individuals with clinical and molecularly confirmed diagnosis of a RASopathy
排除标准
- •Individuals with a RASopathy con confirmed by genetic analysis
结局指标
主要结局
Prevalence of pain in verbal patients with RASopathies
时间窗: 2 years
To detect the prevalence of pain in verbal patients with RASopathies by using VAS (visual analogue scale) or NRS (numeric rating sclae). Both scales include a range from 0 to 10 where 0 represents no pain, 1-3 range represents mild pain, 4-6 range represents moderate pain and 7-10 range represents severe pain.
Prevalence of Pain in no-communitating patients with RASopathies
时间窗: 2 years
To detect the prevalence of pain in no-communicating patients with RASopathies by using FLACC scale. The FLACC Scale includes 5 behavioral categories: facial expression, leg movement, bodily activity, cry or verbalization, and consolability. The parents rated their child's pain at its worst within the preceding 24 h in each category on a scale of 0 to 2, thus an overall pain score ranging from 0 to 10.
次要结局
- Characterization of pain in RASopathies(2 years)