Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell Disease

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.

• INCLUSION CRITERIA

To be eligible to participate in this study, an individual must meet all of the following criteria:

• 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

Exclusion criteria

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