The Study of the Phenotype of Hereditary Xerocytosis
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 20
- 试验地点
- 2
- 主要终点
- identification of PIEZO1 mutations
研究概览
简要总结
Hereditary xerocytosis is a dominant red blood cell membrane disorder characterized by an increased leakage of potassium from the interior to the exterior of the red blood cell membrane, leading to water loss, red cell dehydration, and chronic hemolysis. In 90% of cases, it is associated with heterozygous gain-of-function mutations in PIEZO1, a gene that encodes a mechanotransducer responsible for converting mechanical stimuli into biological signals. The remaining 10% of cases are linked to mutations in the GARDOS channel gene.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 10 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Any patient diagnosed with hereditary xerocytosis according to the 2021 PNDS guidelines
- •Covered by a social security plan
- •Signature of the consent form for study participation by the patient, or for minors, by the parent(s)/legal representative(s).
排除标准
- •patients with other hemolysis reason
结局指标
主要结局
identification of PIEZO1 mutations
时间窗: 36 months
identification of KCNN4 mutations
时间窗: 36 months
correlation between the identified PIEZO1 mutations and Hemoglobin levels
时间窗: 36 months
correlation between the identified KCNN4 mutations and reticulocytes levels
时间窗: 36 months
correlation between the identified KCNN4 mutations and Hemoglobin levels
时间窗: 36 months
correlation between the identified PIEZO1 mutations and reticulocytes levels
时间窗: 36 months
correlation between the identified PIEZO1 mutations and Ferritin levels
时间窗: 36 months
correlation between the identified KCNN4 mutations and Ferritin levels
时间窗: 36 months
correlation between the identified PIEZO1 mutations and MRI quantification of intrahepatic iron
时间窗: 36 months
correlation between the identified KCNN4 mutations and MRI quantification of intrahepatic iron
时间窗: 36 months
次要结局
未报告次要终点