Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell Disease
- Conditions
- Sickle Cell Disease
- Registration Number
- NCT06944067
- Lead Sponsor
- National Human Genome Research Institute (NHGRI)
- Brief Summary
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.
- Detailed Description
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.
Secondary Objective:
Validate and characterize additional, novel alloimmunization-related candidate loci.
Endpoints:
Primary Endpoint:
Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression.
Secondary Endpoint:
No additional candidate loci from concurrent discovery studies to evaluate.
Recruitment & Eligibility
- Status
- NOT_YET_RECRUITING
- Sex
- All
- Target Recruitment
- 50
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression. 5 years Analyze samples from study participants to determine whether they have the loci we previously identified.
- Secondary Outcome Measures
Name Time Method No additional candidate loci from concurrent discovery studies to evaluate. 5 years When we can no longer identify new potentially causal loci, the study endpoint will be achieved.
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States