Pilot Study for the Development of an Activity and Quality of Life Questionnaire for the Follow-up of Patients With Non-dystrophic Myotonia
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 10
- 试验地点
- 2
- 主要终点
- Evaluate the relevance of the MNDActiveLive questionnaire
研究概览
简要总结
Non-dystrophic myotonias (MND) are rare neuromuscular diseases caused by mutations in the voltage-dependent channels of skeletal muscles, resulting in delayed muscle relaxation after voluntary contraction. They include various conditions such as congenital myotonia, congenital paramyotonia and sodium channel myotonia. The main characteristic is myotonia, muscle stiffness accompanied by pain, fatigue and weakness. Symptoms vary in intensity, and fluctuation complicates clinical assessment.
Until now, no validated scale to assess the severity of myotonia is the subject of a consensus among neurologists. It therefore seems necessary to establish a scale to simply and quickly assess the severity of myotonia to fill this need.
The areas of this future scale were identified by the study coordinator based on existing questionnaires and scales. These areas have been validated by a scientific committee composed of expert neurologists.
The main objective of the study is to validate the adequacy and formulation of the scale questions by involving 10 patients who will complete the questionnaire twice to assess its fidelity. At the end of the study, the committee will exclude inappropriate questions. The goal is to create a reliable scale to assess the severity of myotonia.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Evaluate the relevance of the MNDActiveLive questionnaire
时间窗: The day of inclusion
The relevance of the MNDActiveLive questionnaire will be measured using patient responses to the relevance and formulation assessment grid. Indeed, it is about evaluating the percentage of relevant questions (that is, relatively relevant, perfectly relevant and relevant). The question will be considered relevant if the percentage is higher than 80%.
次要结局
- Assess reproducible issues(The day of inclusion and 7 days after)
- Select questions to keep(The day of inclusion and 7 days after)
- Identify questions to rephrase(The day of inclusion)
- Evaluate the formulation of the MNDActiveLive questionnaire(The day of inclusion)
- Identify questions to be excluded(The day of inclusion)