Sickle Cell DiseaseNCT06944067
Study to Understand the Genetic Risk of Developing an Immune Response After Blood Transfusions Among Individuals With Sickle Cell Disease
An observational study of Sickle Cell Disease, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 99 years
- Conditions the study is for
- Sickle Cell Disease
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Jun 2025to 10 Apr 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with sickle cell disease who may or may not have had a history of alloimmune response to blood transfusions. The study population will include children ages 2-17 years old and adults. The study population will not include pregnant women, people taking immunosuppressive medications, or people with a history of transplant (e.g., bone marrow or stem cell transplant).
Who may be able to join
- 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:
- History of greater than ten administered transfusions or 20 transfusion units (where known)
- History of one or more antibody screens
- Known candidate variant genotype
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: Observational Study to Determine Red Blood Cell Alloimmunization Risk Etiology in Patients With Sickle Cell Disease
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.
Read the 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.
- Conditions
- Sickle Cell Disease
- Keywords
- Sickle Cell Disease, Transfusion, Alloimmunization
- Medical subject headings
- Anemia, Sickle Cell
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Alloimmune non-responders | Individuals with sickle cell disease who have received blood transfusions but never had an alloimmune response to transfusion. | |
| Alloimmune responders | Individuals with sickle cell disease who have a history of an alloimmune response when receiving blood transfusions. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression.
Analyze samples from study participants to determine whether they have the loci we previously identified.
Measured: 5 years
Secondary outcomes (1)
No additional candidate loci from concurrent discovery studies to evaluate.
When we can no longer identify new potentially causal loci, the study endpoint will be achieved.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Apr 2025
- Study start24 Jun 2025
- Primary completion10 Apr 2030 (estimated)
- Study completion10 Apr 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sickle Cell DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Retrospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Neil A Hanchard, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06944067
- Sponsor's protocol ID
- 10002264
- Other IDs
- 002264-HG
- Status last verified
- 9 Sep 2026
- First submitted
- 24 Apr 2025
- Last updated
- 11 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational Study to Determine Red Blood Cell Alloimmunization Risk Etiology in Patients With Sickle Cell Disease
- ClinicalTrials.gov ID
- NCT06944067
- Acronym / sponsor ID
- 10002264
- Conditions
- Sickle Cell Disease
- Keywords
- Sickle Cell Disease, Transfusion, Alloimmunization
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 24 Jun 2025 (actual)
- Primary completion
- 10 Apr 2030 (estimated)
- Study completion
- 10 Apr 2030 (estimated)
- First posted
- 25 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Alloimmune non-responders | – | –Individuals with sickle cell disease who have received blood transfusions but never had an alloimmune response to transfusion. |
| Alloimmune responders | – | –Individuals with sickle cell disease who have a history of an alloimmune response when receiving blood transfusions. |
Who may qualify
- Ages
- 2 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with sickle cell disease who may or may not have had a history of alloimmune response to blood transfusions. The study population will include children ages 2-17 years old and adults. The study population will not include pregnant women, people taking immunosuppressive medications, or people with a history of transplant (e.g., bone marrow or stem cell transplant).
Key inclusion criteria (5 listed)
- 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:
- History of greater than ten administered transfusions or 20 transfusion units (where known)
- History of one or more antibody screens
- Known candidate variant genotype
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression.
Time frame: 5 years
Analyze samples from study participants to determine whether they have the loci we previously identified.
1 secondary outcome
No additional candidate loci from concurrent discovery studies to evaluate.
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Sep 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Neil A Hanchard, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sickle Cell Disease, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Emilyn C Banfield ((240) 328-0965, SCDtransfusionstudy@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Completion of analysis of previously identified risk loci to determine the relationship between genome structure and expression. (time frame: 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Sep 2026.