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

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Apr 24, 2025

Keywords

ClinConnect Summary

This clinical trial is looking to understand how our genes might affect the way some people with sickle cell disease respond to blood transfusions. Specifically, it's focusing on a type of immune response called an alloimmune response, which can happen when someone's body reacts to the new blood cells they receive. The researchers want to compare the genes of individuals who develop this response after receiving blood transfusions to those who do not. By understanding these genetic differences, they hope to develop better treatments that can improve health outcomes for those who do have an alloimmune response.

To be eligible for this study, participants need to be at least 2 years old and have a confirmed diagnosis of sickle cell disease. They should also have either received more than ten blood transfusions, had one or more tests for antibodies, or have a known genetic variant related to blood transfusions. However, individuals with certain conditions, such as impaired decision-making ability, a history of organ or stem cell transplants, or those who are pregnant, cannot participate. The trial is not yet recruiting participants, but when it begins, individuals will be asked to provide genetic information to help researchers learn more about these immune responses.

Gender

ALL

Eligibility criteria

• • 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:
• • 1. History of greater than ten administered transfusions or 20 transfusion units (where known)
• • 2. History of one or more antibody screens
• • 3. Known candidate variant genotype
• • EXCLUSION CRITERIA
• An individual who meets any the following criteria will be excluded from participation in this study:
• • 1. Impaired decision-making capability, with or without a legally authorized representative
• • 2. History of transplant (e.g., organ, bone marrow, stem cell)
• • 3. Taking immunosuppressive medications at time of enrollment
• • 4. Confirmed pregnancy