Recruiting

Observational Study

Sponsor:

St. Jude Children's Research Hospital

Code:

NCT04671212

Conditions

Hemoglobinopathies

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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. 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.

Conditions

Hemoglobinopathies

Study ID

NCT04671212

Start date

Jul 26, 2022

Status verified date

Apr, 2026

Completion date

Jan, 2035

Anticipated

Primary completion date

Jan, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 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.

Exclusion Criteria:

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

Study Design

Enrollment

50 participants

Anticipated

Interventions and Outcome Measures

Arms

Orthopedic Surgery Patients

Participants receiving orthopedic surgery for clinical management that involve bone marrow containing bone discard.

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 ]

Central Contacts and Locations

Central contacts

Shannon McKinney-Freeman, Ph.D.

888-226-4343referralinfo@stjude.org

Locations

St. Jude Children's Research Hospital

Recruiting

Memphis, Tennessee, United States, 38105

Contacts

Shannon McKinney-Freeman, Ph.D.

888-226-4343referralinfo@stjude.org

Principal Investigator:

Shannon McKinney-Freeman, Ph.D.

More Information

Sponsor

St. Jude Children's Research Hospital

Last update posted

May 5, 2026

Last verified

Apr, 2026

Keywords

  • Bone samples
  • Bone marrow
  • Discarded
  • Hemoglobinopathies
  • Non-hemoglobinopathies

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by St. Jude Children's Research Hospital on 2026-05-05.