Females With Severe or Moderate Hemophilia A or B: A Multi-Center Study
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 22
- 试验地点
- 19
- 主要终点
- The prevalence of females with severe or moderate hemophilia A or B in the United States.
研究概览
简要总结
To collect and analyze data on females with hemophilia so as to better define the difference between the study population and the male population with hemophilia.
详细描述
This study is designed as an epidemiological study with retrospective clinical and genetic data collection and prospective quality of life (QOL) data collections and genotyping of subjects without current molecular diagnosis. Data on the genetic/chromosomal etiology of the condition will be collected through chart review. For those subjects who have not had molecular or cytogenetic analysis, molecular and cytogenetic testing will be offered after genetic counseling. Those subjects who agree to have genetic testing will have 5-10 ml of blood drawn and sent to the cytogenetic laboratory at Weill Cornell Medical College for testing to determine the chromosomal complement, and 5 ml of blood sent to Dr. Arupa Ganguly at the University of Pennsylvania for the identification of a factor VIII or factor IX mutation, and X-chromosome inactivation studies.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 1 Month 至 —（Child, Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Females with severe (FVIII<0.01u/dl) or moderate (FVIII-0.01<0.06 u/dl) hemophilia A
- •Females with severe (FIX<0.01u/dl) or moderate (FIX-0.01<0.06u/dl) hemophilia B
- •Willingness to participate in the study.
排除标准
- •Subjects who do not meet the inclusion criteria with respect to gender or hemophilia severity.
结局指标
主要结局
The prevalence of females with severe or moderate hemophilia A or B in the United States.
时间窗: Study Duration
次要结局
- Collect existing data on the genetic and/or chromosomal causes for severe and moderate hemophilia A and B in females in the United States.(Study Duration)
- Collect and analyze data on the health-related quality of life and psychosocial adaptation to disease of females in the United States.(Study Duration)
- To determine the natural history of hemophilia in females by collecting and analyzing data on the symptoms, treatment patterns, and complications of hemophilia in this cohort.(Study Duration)