National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis
研究概览
简要总结
Hereditary stomatocytosis is a heterogeneous group of rare constitutional diseases of dominant transmission in the vast majority of cases. The data concerning their clinical and biological presentation, and their evolution are few, and come from about thirty clinical cases. The constitution of an exhaustive French cohort of hereditary stomatocytosis will improve the establishment of the diagnosis and the management of patients
详细描述
The patient is prospectively included. The referring hematologist will inform the patient about participation in the cohort, give him the information note and obtain his non-objection agreement to the use of his data for research purposes.
The data will be collected from the medical file of each patient as part of his usual annual follow-up.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Any patient with a diagnosis of stomatocytosis without age limit
- •Patient affiliated or beneficiary of french Social Security
- •No objection from the patient or legal representative
排除标准
- •Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics
- •Patient under guardianship, with curators or legal protection
结局指标
主要结局
Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis
时间窗: Baseline
Descriptive analysis of clinical and biological data for the diagnosis of stomatocytosis
次要结局
- Describe the appearance of complications(through study completion, an average of 15years)
- Determine the proportion of recurrent genetic mutations and private mutations within our cohort(Baseline)
- Establish phenotypes-genotypes relationships(through study completion, an average of 15years)
- Describe possible new phenotypic presentations of hereditary stomatocytosis(through study completion, an average of 15years)