Observational Study to Determine Red Blood Cell Alloimmunization Risk Etiology in Patients With Sickle Cell Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression.
研究概览
简要总结
The purpose of this research study is to look at genes and determine how they interact with each other to find changes that could explain why some people's immune systems may respond to blood transfusions. This response is called an alloimmune response. We strongly believe that when someone has an alloimmune response, it is caused by changes in their genes. We plan to compare changes in the genes of individuals that develop red blood cell alloimmunization after blood transfusions with those that do not develop alloimmunization. This may help us to create more targeted therapeutic interventions, which may improve the health of alloimmune responders.
详细描述
Study Description:
This study seeks to fine-map risk variants associated with increased susceptibility to developing red blood cell alloantibodies in patients with sickle cell disease (SCD), with the goal of characterizing the molecular basis of the alloimmunization response. This will allow for improved clinical management for individuals susceptible to alloimmunization responses.
Objectives:
Primary Objective:
Elucidate the role of previously identified risk loci in the development of alloantibodies among individuals with SCD.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 2 Years 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA
- •To be eligible to participate in this study, an individual must meet all of the following criteria:
- •1. Individual (> 2 years of age) with confirmed SCD diagnosis who meets at least one of the following conditions:
- •History of greater than ten administered transfusions or 20 transfusion units (where known)
- •History of one or more antibody screens
- •Known candidate variant genotype
排除标准
- •An individual who meets any the following criteria will be excluded from participation in this study:
- •Impaired decision-making capability, with or without a legally authorized representative
- •History of transplant (e.g., organ, bone marrow, stem cell)
- •Taking immunosuppressive medications at time of enrollment
- •Confirmed pregnancy
研究组 & 干预措施
Alloimmune responders
Individuals with sickle cell disease who have a history of an alloimmune response when receiving blood transfusions.
Alloimmune non-responders
Individuals with sickle cell disease who have received blood transfusions but never had an alloimmune response to transfusion.
结局指标
主要结局
Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression.
时间窗: 5 years
Analyze samples from study participants to determine whether they have the loci we previously identified.
次要结局
- No additional candidate loci from concurrent discovery studies to evaluate.(5 years)