Validation of a Clinical Assessment Scale Specific to Alternating Hemiplegia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 17
- 试验地点
- 1
- 主要终点
- Composite primary endpoint : - missing data from the scale <5 - mean scores compared between the 4 neurologists are close to the scale's mid-point, i.e. floor and ceiling effects are < 20%, and skewness statistics are between 21 and 11
研究概览
简要总结
Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disorder of genetic origin, combining paroxysmal episodes and neurodevelopmental impairment. The disease is generally sporadic, and its incidence has been estimated at 1 in 100,000 births, with around 500 cases published worldwide. The true prevalence of AHC may be underestimated due to a lack of understanding of the disease and a high degree of phenotypic heterogeneity.
It should be noted that, to date, it is difficult to assess the clinical characteristics of AHC patients in a homogeneous way. The lack of disease-specific clinical outcome measures therefore constitutes a critical node for advancing AHC research. In addition, recognition of the pattern of movement disorders and the ability to classify their severity are very important and useful for the clinician. Homogeneous disease assessment will help plan rehabilitative and pharmacological interventions, facilitate monitoring of treatment outcomes, and predict prognosis.
This is why an AHC assessment scale have been developed in collaboration with clinical teams from the IAHCRC consortium.
The scale has already been tested and validated on Italian and Spanish patients. The aim of this study is therefore to validate the use of this same scale on our French population of AHC patients. The hypothesis of the study is that the practical use of this scale specific to alternating hemiplegia is reproducible. To this end, all the items on the scale will be scored independently for each patient by 4 neuropediatricians with expertise in the disease, in order to observe the reproducibility of the results obtained with this scale. The scale will be used for twenty AHC patients of all ages.
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
- 0 Years 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient with confirmed diagnosis of AHC, unrestricted age range 0-99 years
- •At least one parent and/or legal guardian who understands and speaks the national language
- •Adult patients :
- •Gathering of the non-opposition of the patient and/or his legal representative
- •Minor patients :
- •Collection of non-opposition from parents/guardians
排除标准
- •Patient's refusal to participate in the study
- •Patient under court protection, unable to give consent
结局指标
主要结局
Composite primary endpoint : - missing data from the scale <5 - mean scores compared between the 4 neurologists are close to the scale's mid-point, i.e. floor and ceiling effects are < 20%, and skewness statistics are between 21 and 11
时间窗: At inclusion
All statistical tests will be performed using SPSS version 24.0 statistical software, and P \< 0.05 will be considered significant. Validation of the use of the scale based on the results obtained independently by the 4 expert neurologists using a composite primary endpoint consisting of three criteria: * missing data from the scale \<5 * mean scores compared between the 4 neurologists are close to the scale's mid-point, i.e. floor and ceiling effects are \< 20%, and skewness statistics are between 21 and 11.
次要结局
未报告次要终点