Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients With Haemophilia A and B
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 250
- 试验地点
- 1
- 主要终点
- Initiation pathway correlation with clinical phenotype
研究概览
简要总结
Severe haemophilia A and B (SHA, SHB) are X - linked inherited bleeding disorders, characterised by factor VIII and IX levels of <1 IU/dL respectively. The mainstay of treatment in SHA and SHB is replacement therapy with intravenous infusions of factor VIII and IX. However, there is significant variability in the bleeding phenotype within severe haemophiliacs with some presenting with minimal bleeding episodes even on less intensive treatment regimens. A significant contributor to inter-individual variability in the bleeding phenotype is the coagulation phenotype, but there are no established assays in routine clinical practice that can be used to quantify this. This study aims to study novel assays and characterise the observed phenotypic heterogeneity.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •Patients with haemophilia A or B (baseline FVIII/FIX level <30%)
- •Age ≥ 18 years
- •Written informed consent in accordance with local and institutional guidelines.
排除标准
- •Patients currently enrolled into a clinical trial of investigational medicinal product for haemophilia.
- •Healthy Volunteers
- •Inclusion Criteria:
- •Currently not receiving any antiplatelet or anticoagulant therapy or other drugs that can affect the coagulation system.
- •Age ≥ 18 years
- •Written informed consent in accordance with local and institutional guidelines.
结局指标
主要结局
Initiation pathway correlation with clinical phenotype
时间窗: Within 18 months of consent
Correlate lab assays that characterise initiation pathway with clinical phenotype.
次要结局
- Correlation analysis between FVIII:C/FIX:C levels and whole blood clotting time, thrombin generation in platelet poor plasma.(Within 18 months of consent)
- Evaluation the sensitivity and specificity of global assays for disease severity and clinical phenotype.(Within 18 months of consent)
- Correlation analysis between activation threshold of initiation pathway to thrombin generation and clinical phenotype(Within 18 months of consent)
研究者
Pratima Chowdary
Dr Pratima Chowdary
Royal Free Hospital NHS Foundation Trust