HemoglobinopathiesNCT04671212
Discarded Bone Marrow for Hematology Research
An observational study of Hemoglobinopathies, run by St. Jude Children's Research Hospital at 1 site in United States.
Trial summary
The primary objective of this study is to establish a mechanism to obtain discarded bone marrow-containing bone samples from hemoglobinopathy, as well as non-hemoglobinopathy individuals. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hemoglobinopathies
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 26 Jul 2022to Jan 2035
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants who meet the Eligibility Criteria.
Who may be able to join
- Patients of any age receiving orthopedic surgery for clinical management that involve bone marrow containing bone discard.
- Patients receiving orthopedic surgery for clinical management will be considered for this study if they have the following diagnosis and criteria:
- Homozygous S/S disease or doubly heterozygous for S and β thalassemia who are two years or older are eligible.
- HbE-β- thalassemia or homozygous (severe) β-thalassemia. including those who are transfusion dependent (major) or severely anemic but relatively transfusion independent (intermedia). Diagnostic criteria include standard hematological parameters, red cell indices, hemoglobin electrophoresis and quantitative determination of HbF and HbA2.
Who cannot join
- Active, acute manifestations of sickle cell disease including painful crisis, acute chest syndrome, cerebrovascular events or active infection.
- Pregnant women will not be eligible for study enrollment
- Inability or unwillingness of the research participant or legal guardian/representative to give written informed consent will preclude enrollment on this research protocol.
- Platelet count < 150,000/mm^3
- Neutrophil count < 2000/mm^3
- Neutrophil count < 1000/mm^3 for patients on hydroxyurea therapy
Show all 9Show fewer
- Prothrombin Time > 17 seconds
- Partial thromboplastin Time > 43 seconds
- History of excessive bleeding in the context of previous procedures including surgery and dental extractions
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
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Shannon McKinney-Freeman, Ph.D., 888-226-4343, referralinfo@stjude.org
Shannon McKinney-Freeman, Ph.D.
About this study
The primary objective of this study is to establish a mechanism to obtain discarded bone marrow-containing bone samples from hemoglobinopathy, as well as non-hemoglobinopathy individuals. The processing of samples will help to understand how best to manipulate HSPC's from hemoglobinopathy patients with gene therapy and gene technologies in the laboratory environment. It will also allow us to establish a reservoir of samples that can be studied in the future to assess cellular function and fitness for transplant.
Secondary objectives
- To develop gene transfer and gene editing strategies as potentially curative therapy for hemoglobinopathies (e.g. sickle cell disease (SCD) and β-thalassemia).
- To develop a drug treatment strategy which elevates the expression of fetal hemoglobin to a potentially curative level for hemoglobinopathies.
- To examine the biology of bone marrow cells isolated from patients with hemoglobinopathies.
Read the detailed description
The hemoglobinopathies (e.g. sickle cell disease (SCD) and thalassemia) are devastating inherited anemias that shorten and reduce quality of life. The only current curative therapy for SCD is bone marrow transplantation. However, many patients lack access to suitable donors for transplant. Alternative treatments based on gene therapy, gene editing and novel drugs are currently being developed and show great promise for hemoglobinopathies. Gene therapy and gene editing are especially appealing because they eliminate both the need for donors and the potentially devastating side effects of Graft-versus-Host Disease because they take advantage of the patients own cells. In gene therapy approaches, hematopoietic stem and progenitor cells (HSPCs) are collected from a patient and then treated to 'correct' or 'replace' the disease-causing mutation. However, much work remains to develop optimal gene therapy and gene editing protocols, as well as better understand the inherent biology of HSPCs in patients with hemoglobinopathies.
Researchers at St. Jude want to learn how to best manipulate HSPCs from hemoglobinopathy patients with gene therapy and gene editing technologies to achieve optimal gene correction and/or replacement, as well as optimal engraftment of 'corrected' HSPCs after transplantation. St. Jude researchers also seek to test candidate drugs on SCD HSPCs that might ameliorate the symptoms of SCD. Finally, St. Jude researchers seek to thoroughly characterize the basic biology and function of HSPCs isolated from hemoglobinopathy patients.
Bone marrow-containing bone samples that are typically discarded during orthopedic surgery will be saved from hemoglobinopathy patients, as well as non- hemoglobinopathy patients, undergoing these surgeries. These samples will be shipped to the St. Jude Hematology Department for experimental research aimed at addressing the primary and secondary objectives of this protocol.
- Conditions
- Hemoglobinopathies
- Keywords
- Bone samples, Bone marrow, Discarded, Hemoglobinopathies, Non-hemoglobinopathies
- Medical subject headings
- Hemoglobinopathies
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 |
|---|---|---|
| Orthopedic Surgery Patients | Participants receiving orthopedic surgery for clinical management that involve bone marrow containing bone discard. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection, processing and storage of discarded bone marrow-containing bone samples from hemoglobinopathy, as well as non-hemoglobinopathy individuals.
Discarded bone marrow-containing bone samples will be collected for use in research; The processing of samples will help to understand how best to manipulate HSPC's from hemoglobinopathy patients with gene therapy and gene technologies in the laboratory environment. It will also allow us to establish a reservoir of samples that can be studied in the future to assess cellular function and fitness for transplant. Samples may be subject to comprehensive assessment of hematopoietic activity using tissue culture based assays, as well as molecular profiling studies of global transcriptome and epigenomes.
Measured: After completion of sample collection, approximately 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2020
- Study start26 Jul 2022
- Primary completionJan 2030 (estimated)
- Study completionJan 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HemoglobinopathiesStudies of the same condition, open and under way.
- More trials run by St. Jude Children's Research HospitalThe sponsor's other registered studies.
- 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
- Other
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- St. Jude Children's Research Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Shannon McKinney-Freeman, Ph.D., Principal investigator, St. Jude Children's Research Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04671212
- Sponsor's protocol ID
- BMHR
- Status last verified
- Apr 2026
- First submitted
- 2 Dec 2020
- Last updated
- 5 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Discarded Bone Marrow for Hematology Research
- ClinicalTrials.gov ID
- NCT04671212
- Acronym / sponsor ID
- BMHR
- Conditions
- Hemoglobinopathies
- Keywords
- Bone samples, Bone marrow, Discarded, Hemoglobinopathies, Non-hemoglobinopathies
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- St. Jude Children's Research HospitalUniversity, hospital or other
- Study start
- 26 Jul 2022 (actual)
- Primary completion
- Jan 2030 (estimated)
- Study completion
- Jan 2035 (estimated)
- First posted
- 17 Dec 2020 (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 primary objective of this study is to establish a mechanism to obtain discarded bone marrow-containing bone samples from hemoglobinopathy, as well as non-hemoglobinopathy individuals. The processing of samples will help to understand how best to manipulate HSPC's from hemoglobinopathy patients with gene therapy and gene technologies in the laboratory environment. It will also allow us to establish a reservoir of samples that can be studied in the future to assess cellular function and fitness for transplant.
Secondary objectives
- To develop gene transfer and gene editing strategies as potentially curative therapy for hemoglobinopathies (e.g. sickle cell disease (SCD) and β-thalassemia).
- To develop a drug treatment strategy which elevates the expression of fetal hemoglobin to a potentially curative level for hemoglobinopathies.
- To examine the biology of bone marrow cells isolated from patients with hemoglobinopathies.
Detailed description
The hemoglobinopathies (e.g. sickle cell disease (SCD) and thalassemia) are devastating inherited anemias that shorten and reduce quality of life. The only current curative therapy for SCD is bone marrow transplantation. However, many patients lack access to suitable donors for transplant. Alternative treatments based on gene therapy, gene editing and novel drugs are currently being developed and show great promise for hemoglobinopathies. Gene therapy and gene editing are especially appealing because they eliminate both the need for donors and the potentially devastating side effects of Graft-versus-Host Disease because they take advantage of the patients own cells. In gene therapy approaches, hematopoietic stem and progenitor cells (HSPCs) are collected from a patient and then treated to 'correct' or 'replace' the disease-causing mutation. However, much work remains to develop optimal gene therapy and gene editing protocols, as well as better understand the inherent biology of HSPCs in patients with hemoglobinopathies.
Researchers at St. Jude want to learn how to best manipulate HSPCs from hemoglobinopathy patients with gene therapy and gene editing technologies to achieve optimal gene correction and/or replacement, as well as optimal engraftment of 'corrected' HSPCs after transplantation. St. Jude researchers also seek to test candidate drugs on SCD HSPCs that might ameliorate the symptoms of SCD. Finally, St. Jude researchers seek to thoroughly characterize the basic biology and function of HSPCs isolated from hemoglobinopathy patients.
Bone marrow-containing bone samples that are typically discarded during orthopedic surgery will be saved from hemoglobinopathy patients, as well as non- hemoglobinopathy patients, undergoing these surgeries. These samples will be shipped to the St. Jude Hematology Department for experimental research aimed at addressing the primary and secondary objectives of this protocol.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Orthopedic Surgery Patients | – | –Participants receiving orthopedic surgery for clinical management that involve bone marrow containing bone discard. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants who meet the Eligibility Criteria.
Key inclusion criteria (4 listed)
- Patients of any age receiving orthopedic surgery for clinical management that involve bone marrow containing bone discard.
- Patients receiving orthopedic surgery for clinical management will be considered for this study if they have the following diagnosis and criteria:
Key exclusion criteria (9 listed)
- Active, acute manifestations of sickle cell disease including painful crisis, acute chest syndrome, cerebrovascular events or active infection.
- Pregnant women will not be eligible for study enrollment
- Inability or unwillingness of the research participant or legal guardian/representative to give written informed consent will preclude enrollment on this research protocol.
- Platelet count < 150,000/mm^3
- Neutrophil count < 2000/mm^3
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
Collection, processing and storage of discarded bone marrow-containing bone samples from hemoglobinopathy, as well as non-hemoglobinopathy individuals.
Time frame: After completion of sample collection, approximately 10 years
Discarded bone marrow-containing bone samples will be collected for use in research; The processing of samples will help to understand how best to manipulate HSPC's from hemoglobinopathy patients with gene therapy and gene technologies in the laboratory environment. It will also allow us to establish a reservoir of samples that can be studied in the future to assess cellular function and fitness for transplant. Samples may be subject to comprehensive assessment of hematopoietic activity using tissue culture based assays, as well as molecular profiling studies of global transcriptome and epigenomes.
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 5 May 2026.
- St. Jude Children's Research HospitalLink provided by the sponsor.
- Clinical Trials Open at St. JudeLink provided by the sponsor.
Related trials for Hemoglobinopathies
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Haploidentical Hematopoietic Cell Transplantation Using TCR Alpha/Beta and CD19 Depletion
Acute Lymphoblastic Leukemia in Remission, Acute Myeloid Leukemia in Remission
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Determination of Red Cell Survival in Sickle Cell Disease and Other Hemoglobinopathies Using Biotin Labeling
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Campath/Fludarabine/Melphalan Transplant Conditioning for Non-Malignant Diseases
Metabolic Disorders, Hematologic, Immune, or Bone Marrow Disorders
RecruitingObservational study
Long Term Follow-Up Study for Individuals With Hemoglobin Disorders After Hematopoietic Cell Transplant or Gene Therapy
Hemoglobin Disorder
Active, not recruitingPhase 4
A Study to Evaluate the Safety and Effectiveness of Luspatercept for the Treatment of Transfusion-dependent (TD) Anemia Associated With Myelodysplastic Syndromes (MDS) & Beta-thalassemia (β-Thal) in India
Anemia
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.
Shannon McKinney-Freeman, Ph.D. principal investigator
St. Jude Children's Research Hospital
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 Hemoglobinopathies, run by St. Jude Children's Research Hospital 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 4 inclusion and 9 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 5 May 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 Shannon McKinney-Freeman, Ph.D. (888-226-4343, referralinfo@stjude.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Collection, processing and storage of discarded bone marrow-containing bone samples from hemoglobinopathy, as well as non-hemoglobinopathy individuals. (time frame: After completion of sample collection, approximately 10 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 5 May 2026; AzTrials last refreshed its copy on 28 Oct 2026.