Bone Marrow for Hemoglobinopathy Research

NCT00669305 | Completed

• 4 other identifiers: BMRU54HL070590P01HL053749201003
• Study Type: observational
• Target: 26
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Sickle Cell Anemia; Thalassemia

Keywords

Genetics; Blood cells; Vector-mediated gene transfer; Bone marrow; CD34 cells

Outcome Measures

Primary Outcomes (1)

• 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.

  4 years

Study Arms (1)

Cohort 1

Human participants affected with sickle cell disease or thalassemia will donate bone marrow for use in experimental models

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Sickle Cell Anemia or Thalassemia

You may qualify if:

• 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.

You may not qualify if:

• 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
• Prothrombin Time \> 17 seconds
• Partial thromboplastin Time \> 43 seconds
• History of excessive bleeding in the context of previous procedures including surgery and dental extractions

Sponsors & Collaborators

• St. Jude Children's Research Hospital: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator
• Assisi Foundation: collaborator
• University of Tennessee: collaborator

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location

Related Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Biospecimen

Retention: SAMPLES WITH DNA

Stem Cells through Bone Marrow Aspiration

MeSH Terms

Conditions

Anemia, Sickle Cell; Thalassemia

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Mitchell J. Weiss, MD, PhD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 28, 2008
• First Posted: April 30, 2008
• Study Start: May 15, 2008
• Primary Completion: August 29, 2019
• Study Completion: August 29, 2019
• Last Updated: February 25, 2020

Record last verified: 2020-02

Locations

US (1)