Diagnosis of Platelet Dense Granules Anomalies in Unexplained Hemorrhagic Syndromes
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 166
- 试验地点
- 1
- 主要终点
- Platelet response to different agonists
研究概览
简要总结
The study aims to know the overall prevalence of granular deficits and their breakdown by type (anomaly of number, content or secretion) in a population of patients with hemorrhagic symptomatology after exclusion of other known causes.
This study consists also to evaluate the association between the presence of a deficit in dense granules and (1) the intensity of the hemorrhagic phenotype (hemorrhagic score) (2) the nature of hemorrhages (post-operative, spontaneous, atypical...)
-Evaluate the association between the type of deficit in dense granules and (1) the intensity of the hemorrhagic phenotype (hemorrhagic score) (2) the nature of hemorrhages (post-operative, spontaneous, atypical...)
详细描述
Patients will be recruited during the exploration visit (v0) or the confirmation/typing visit (v1) according to their follow-up.
- Exploration visit (v0): inclusion of patients without prior platelet exploration, and study of their dense platelet granules.
- Confirmation/typing visit (v1): verification of the persistence of anomalies detected in patients with an abnormality identified during v0 (no later than 6 months after v0) and in patients for whom a dense granules anomaly has already been identified during their standard management prior to the start of the study. Completion of complementary examinations to complement the typing of the granular anomaly and molecular analysis for family cases
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 2 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Adult or child patient ≥ 2 years
- •Having a hemorrhagic score ISTH > 3 for men, > 5 for women and > 2 for children.
- •With no abnormal coagulation (defined by normal TP and TCK or activity ≥ 50% of FII, FV, FVII, FX, FVIII, FIX, FXI)
- •no deficiency of Willebrand factor (defined by a cofactor activity with Ristoctin (VWF: RCo < 50%))
- •no a known major thrombocytopenia/thrombopathy linked to a deficiency of one of the major platelet receptors
- •Information of the patient and/or his legal representative present
排除标准
- •Inability or refusal of compliance with research requirements
- •Thrombocytopenia < 100 G/L
- •Treatments interfering with platelet functions within 10 days prior to inclusion
- •Malignant hemopathy
结局指标
主要结局
Platelet response to different agonists
时间窗: At 6 months
Use of some low-dose agonists such as ADP, epinephrine or collagen, which are particularly susceptible to granular defects, on platelet-rich plasma (PRP) prepared from the patient's blood sample to be explored
Granular Delta content
时间窗: Baseline (M0)
Dosage of platelet serotonin by measuring platelet serotonin by HPLC.
Measurement of ATP
时间窗: At 6 months
The measurement is based on the principle of bioluminescence with a two-step transformation reaction of luciferin in the presence of luciferase, this reaction requiring the presence of ATP
Measurement of granules opacity
时间窗: at 6 months
Delta granules contain calcium, which makes them naturally opaque to electrons and thus allows their direct visualization in electronic microscopy.
Platelet response to different agonists
时间窗: Baseline (M0)
Us of some low-dose agonists such as ADP, epinephrine or collagen, which are particularly susceptible to granular defects, on platelet-rich plasma (PRP) prepared from the patient's blood sample to be explored
Measurement of ATP
时间窗: Baseline (M0)
The measurement is based on the principle of bioluminescence with a two-step transformation reaction of luciferin in the presence of luciferase, this reaction requiring the presence of ATP
Measurement of granules opacity
时间窗: Baseline (M0)
Delta granules contain calcium, which makes them naturally opaque to electrons and thus allows their direct visualization in electronic microscopy.
次要结局
- Hemorrhagic risk assessment(Baseline (M0))
- Prothrombin consumption(at 6 months)
- Genetic anomalies of delta granules(At 6 months)
- Typage of delta granules anomalies(At 6 months)
- Prothrombin consumption(Baseline (M0))