Understanding genetic risks of immune responses after blood transfusions in sickle cell disease
Observational Study to Determine Red Blood Cell Alloimmunization Risk Etiology in Patients With Sickle Cell Disease
This study is trying to find out how genetics affect the immune response to blood transfusions in people with sickle cell disease to help improve their treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 2 Years to 99 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT06944067 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the genetic factors that may influence the immune response to blood transfusions in individuals with sickle cell disease (SCD). Researchers will compare the genetic profiles of patients who develop alloimmunization after transfusions with those who do not, focusing on previously identified risk loci and exploring additional candidate loci. The goal is to enhance clinical management and develop targeted therapies for patients susceptible to these immune responses.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals over 2 years of age with a confirmed diagnosis of sickle cell disease and a history of multiple blood transfusions or known genetic variants.
Not a fit: Patients with impaired decision-making capabilities, those who have undergone transplants, or are currently on immunosuppressive medications may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved treatment strategies for patients with sickle cell disease who are at risk of developing harmful immune responses to blood transfusions.
How similar studies have performed: While this study explores genetic factors in alloimmunization, similar studies have shown promise in understanding immune responses, indicating potential for success.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Neil A Hanchard, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Emilyn C Banfield
- Email: SCDtransfusionstudy@mail.nih.gov
- Phone: (240) 328-0965
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.