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

NCT ID: NCT06944067

Last Updated: 2026-01-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-06-24

Study Completion Date

2030-04-10

Brief Summary

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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

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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.

Conditions

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Sickle Cell Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

RETROSPECTIVE

Study Groups

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Alloimmune non-responders

Individuals with sickle cell disease who have received blood transfusions but never had an alloimmune response to transfusion.

No interventions assigned to this group

Alloimmune responders

Individuals with sickle cell disease who have a history of an alloimmune response when receiving blood transfusions.

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

2 Years

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Neil A Hanchard, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Human Genome Research Institute (NHGRI)

Locations

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National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Emilyn C Banfield

Role: CONTACT

(240) 328-0965

Neil A Hanchard, M.D.

Role: CONTACT

(301) 594-2151

Facility Contacts

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NIH Clinical Center Office of Patient Recruitment (OPR)

Role: primary

800-411-1222 ext. TTY dial 711

Related Links

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Other Identifiers

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002264-HG

Identifier Type: -

Identifier Source: secondary_id

10002264

Identifier Type: -

Identifier Source: org_study_id

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