Sickle Cell AnemiaNCT00669305
Bone Marrow for Hemoglobinopathy Research
An observational study of Sickle Cell Anemia and Thalassemia, run by St. Jude Children's Research Hospital at 1 site in United States.
Trial summary
Human participants affected with sickle cell disease or thalassemia will donate bone marrow for use in experimental laboratory models to study potential new treatments. This is an observational study using bone marrow from human participants. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Sickle Cell Anemia, Thalassemia
- How many people
- 26 participants
- Where
- 1 siteUnited States
- Study dates
- 15 May 2008to 29 Aug 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
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: Patients with Sickle Cell Anemia or Thalassemia
Who may be able to join
- Patients with homozygous S/S disease or doubly heterozygous for S and β thalassemia who are 2 years or older are eligible. Patients with HbE- β- thalassemia or homozygous (severe) β-thalassemia are also eligible. Patients with thalassemia include 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.
- Patients are eligible for participation in the protocol only if they are currently clinically stable and have been free of all acute disease manifestations for a minimum of 14 days.
- Patients may participate while continuing their current therapeutic regimen including regular transfusion therapy or hydroxyurea administration.
- In general, two categories of patients will be considered as research participants in this protocol.
- Patients who are 18 years or older and therefore able to provide informed consent will be eligible. Such individuals will be recruited from among patients followed at SJCRH. In addition, individuals followed in an outside clinic who are recruited will be asked to come to the Hematology Clinic at SJCRH to enroll and have the procedure performed. Alternatively, if a patient who is 18 or older is to undergo a diagnostic or surgical procedure under general anesthesia, and they agree to participate in the study, the bone marrow aspirate will be obtained at that time.
- Patients between the ages of 2 and 17 years who are scheduled for a diagnostic or surgical procedure at SJCRH or LeBonheur Children's Medical Center for which sedation or general anesthesia is indicated will be eligible for protocol enrollment. A bone marrow aspiration will be performed during the sedation or general anesthesia for the diagnostic or surgical procedure.
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 (unless on hydroxyurea therapy)
- Neutrophil count < 1000/mm^3 for patients on hydroxyurea therapy
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- 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.
United States1 site
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
About this study
Human participants affected with sickle cell disease or thalassemia will donate bone marrow for use in experimental laboratory models to study potential new treatments. This is an observational study using bone marrow from human participants. The investigators will use sickle cell and thalassemia mouse models to observe and evaluate the possibility of correcting these disorders through genetic alterations or drug treatment.
Read the detailed description
These studies are designed to evaluate the potential of retroviral vector mediated gene transfer, gene editing, or drug treatment to correct the pathophysiology of sickle cell anemia and β-thalassemia. CD34+ cells purified from bone marrow of research participants with a sickle cell syndrome or a thalassemia syndrome will be subjected to genetic editing, drug treatment, or transduced with retroviral vectors containing γ-globin coding sequences under the control of the β-globin gene promoter and including various regulatory elements chosen to enhance gene expression and to insulate regulatory elements from cellular genes at or near the integration sites. The efficiency of gene transfer and the function of the globin transgene will be evaluated in erythroid cells derived from transduced progenitors and from the progenitors in the bone marrow of immunodeficient mice engrafted with transduced, primitive hematopoietic cells. The hypothesis to be tested in this research is that a gene therapy vector, gene editing strategy, or drug modality can be designed to achieve a potentially therapeutic level of globin gene expression in maturing erythroid cells.
- Conditions
- Sickle Cell Anemia, Thalassemia
- Keywords
- Genetics, Blood cells, Vector-mediated gene transfer, Bone marrow, CD34 cells
- Medical subject headings
- Anemia, Sickle Cell, Thalassemia
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 |
|---|---|---|
| Cohort 1 | Human participants affected with sickle cell disease or thalassemia will donate bone marrow for use in experimental models |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of successful achievement of therapeutic level in mouse models resulting from retroviral vector mediated gene transfer, gene editing or drug treatment.
The specific hypothesis to be tested is that a gene therapy vector, gene editing strategy, or drug modality can be designed that achieves a therapeutic level of globin production in transduced cells in mouse models.
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2008 (estimated)
- Study start15 May 2008
- Primary completion29 Aug 2019
- Study completion29 Aug 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sickle Cell AnemiaStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 26 participants (actual)
Sponsor and investigators
- Lead sponsor
- St. Jude Children's Research Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI), Assisi Foundation, University of Tennessee
- Responsible party
- Sponsor
- Investigators
- Mitchell J. Weiss, MD, PhD, Principal investigator, St. Jude Children's Research Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00669305
- Sponsor's protocol ID
- BMR
- Other IDs
- U54HL070590, P01HL053749, 201003
- Status last verified
- Feb 2020
- First submitted
- 28 Apr 2008
- Last updated
- 25 Feb 2020
- 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 25 Feb 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Bone Marrow for Hemoglobinopathy Research
- ClinicalTrials.gov ID
- NCT00669305
- Acronym / sponsor ID
- BMR
- Conditions
- Sickle Cell Anemia, Thalassemia
- Keywords
- Genetics, Blood cells, Vector-mediated gene transfer, Bone marrow, CD34 cells
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 26 participants (actual)
- Lead sponsor
- St. Jude Children's Research HospitalUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI), Assisi Foundation, University of Tennessee
- Study start
- 15 May 2008 (actual)
- Primary completion
- 29 Aug 2019 (actual)
- Study completion
- 29 Aug 2019 (actual)
- First posted
- 30 Apr 2008 (estimated)
- 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.
Human participants affected with sickle cell disease or thalassemia will donate bone marrow for use in experimental laboratory models to study potential new treatments. This is an observational study using bone marrow from human participants. The investigators will use sickle cell and thalassemia mouse models to observe and evaluate the possibility of correcting these disorders through genetic alterations or drug treatment.
Detailed description
These studies are designed to evaluate the potential of retroviral vector mediated gene transfer, gene editing, or drug treatment to correct the pathophysiology of sickle cell anemia and β-thalassemia. CD34+ cells purified from bone marrow of research participants with a sickle cell syndrome or a thalassemia syndrome will be subjected to genetic editing, drug treatment, or transduced with retroviral vectors containing γ-globin coding sequences under the control of the β-globin gene promoter and including various regulatory elements chosen to enhance gene expression and to insulate regulatory elements from cellular genes at or near the integration sites. The efficiency of gene transfer and the function of the globin transgene will be evaluated in erythroid cells derived from transduced progenitors and from the progenitors in the bone marrow of immunodeficient mice engrafted with transduced, primitive hematopoietic cells. The hypothesis to be tested in this research is that a gene therapy vector, gene editing strategy, or drug modality can be designed to achieve a potentially therapeutic level of globin gene expression in maturing erythroid cells.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | –Human participants affected with sickle cell disease or thalassemia will donate bone marrow for use in experimental models |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Sickle Cell Anemia or Thalassemia
Key inclusion criteria (6 listed)
- Patients with homozygous S/S disease or doubly heterozygous for S and β thalassemia who are 2 years or older are eligible. Patients with HbE- β- thalassemia or homozygous (severe) β-thalassemia are also eligible. Patients with thalassemia include 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.
- Patients are eligible for participation in the protocol only if they are currently clinically stable and have been free of all acute disease manifestations for a minimum of 14 days.
- Patients may participate while continuing their current therapeutic regimen including regular transfusion therapy or hydroxyurea administration.
- In general, two categories of patients will be considered as research participants in this protocol.
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 (unless on hydroxyurea therapy)
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
Percentage of successful achievement of therapeutic level in mouse models resulting from retroviral vector mediated gene transfer, gene editing or drug treatment.
Time frame: 4 years
The specific hypothesis to be tested is that a gene therapy vector, gene editing strategy, or drug modality can be designed that achieves a therapeutic level of globin production in transduced cells in mouse models.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Feb 2020.
- St. Jude Children's Research HospitalLink provided by the sponsor.
- Clinical Trials Open at St. JudeLink provided by the sponsor.
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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. This study is not recruiting at the moment.
Mitchell J. Weiss, MD, PhD 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 Sickle Cell Anemia and Thalassemia, 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 6 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: finished, as of the sponsor's last update on 25 Feb 2020. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Percentage of successful achievement of therapeutic level in mouse models resulting from retroviral vector mediated gene transfer, gene editing or drug treatment. (time frame: 4 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 25 Feb 2020.