Genotypic and Phenotypic Analysis of Adolescents With Heavy Menstrual Bleeding and Low Von Willebrand Activity
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 120
- 试验地点
- 12
- 主要终点
- Number of adolescents with Low VWF and HMB with genetic variations in VWF gene and other genes affecting bleeding, clotting and blood vessel biology
研究概览
简要总结
This is a research study for patients diagnosed with heavy menstrual bleeding (HMB) and low Von Willebrand Factor (VWF). Menstruation, also known as a period, is the regular discharge of blood and tissues from the uterus. HMB is having a heavier amount of discharge during menstrual period. Low Von Willebrand Factor means that the participant has lower level of a blood protein that is important for clotting of blood and so, the participant is at a higher risk for bleeding.
The purpose of this project is to study the genetic differences of adolescent females with HMB and low VWF activity and compare the genetic differences with their bleeding manifestations, response to medications and outcome.
详细描述
One hundred and twenty subjects will be enrolled. Adolescent females with heavy menstrual bleeding (HMB) and low Von Willebrand Factor (VWF) will be recruited.
Data collection will occur from participant's medical records in regards to their low VWF activity and HMB medical history.
Participants will be asked to complete symptom questionnaires in regards to their HMB.
A blood sample will be collected to analyze how many participants have the disease causing sequence variation in the VWF gene and other genes affecting bleeding, clotting and blood vessel biology and correlated with their bleeding history.
The blood sample will be deidentified and stored indefinitely for future research.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 21 Years（Child, Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Post-menarchal females less than 21 years of age
- •HMB defined as PBAC score greater than 100
- •VWF:Activity more than or equal to 30 and less than or equal to 50 IU/dL x 2
- •VWF: Activity /VWF:Ag ratio greater than or equal to 0.6
- •Normal VW multimers, if performed
排除标准
- •Post menarchal females age greater than or equal to 21 years
- •VWF: Activity less than 30 or greater than 50 IU/dL consistently, type 2 or type 3 VWD
- •Presence of other bleeding disorders (thrombocytopenia, platelet function defect, coagulation factor deficiency, fibrinogen defect or deficiency)
结局指标
主要结局
Number of adolescents with Low VWF and HMB with genetic variations in VWF gene and other genes affecting bleeding, clotting and blood vessel biology
时间窗: 3 years
The genetic variations of adolescent females with heavy menstrual bleeding and low von Willebrand factor activity in VWF gene and other genes affecting bleeding, clotting and blood vessel biology
次要结局
- Number of adolescents with Low VWF and HMB with genetic variations and bleeding phenotype (including PBAC score and ISTH-BAT score, response to DDAVP challenge, HMB therapy)(3 years)
研究者
Sarah Sartain
Assistant Professor
Baylor College of Medicine