BMR: Bone Marrow Collection for Sickle Cell and Thalassemia Research

These studies will evaluate the potential of retroviral vector mediated gene transfer, gene editing (via CRISPR, Talen, zinc finger, or other novel modifications), or drug treatment (epigenetic modifier drugs), to correct the pathophysiology of sickle cell anemia and beta thalassemia.

CD34+ cells purified from bone marrow of research participants with a sickle cell syndrome will undergo genetic editing, drug treatment or be transduced with retroviral vectors to enhance gene expression and insulate regulatory elements from cellular genes at or near the integration sites.

Potential participants include adults at least 18 years old or children between the ages of 2 and 17 who are scheduled to be sedated or undergo general anesthesia for an unrelated diagnostic or surgical procedure.

Primary Objective

• To develop retroviral vector mediated gene transfer as a potentially curative therapy for sickle cell anemia and beta thalassemia
• To develop a gene editing strategy which elevates the expression of fetal hemoglobin to potentially curative level for sickle cell anemia and β-thalassemia
• To develop a drug treatment strategy which elevates the expression of fetal hemoglobin to a potentially curative level for sickle cell anemia and β-thalassemia

Eligibility Criteria

Inclusion criteria include:

• At least 2 years old
• Homozygous S/S disease or doubly heterozygous for S and beta thalassemia OR
• HbE beta thalassemia or homozygous (severe) beta thalassemia
• Adequate blood counts

Exclusion criteria include:

• Pregnancy
• Active sickle cell disease (pain crises, acute chest syndrome, cerebrovascular events or active infection)

Only current St. Jude patients are eligible.

Study Sites

St. Jude Children’s Research Hospital, Memphis, Tennessee

Sickle cell anemia is an inherited disease primarily affecting individuals of African American descent.  It can both shorten and reduce the quality of life by creating risk for strokes and causing chronic organ damage.

Gene therapy may potentially address the lack of available healing therapy.  This study will use bone marrow stem cells from patients with sickle cell disease or beta thalassemia. Stem cells are able to become any type of blood cell.  They usually live in the bone marrow. 

If you participate in this study, you will be asked to donate stem cells. Researchers will collect your cells by taking a sample of your liquid marrow through a needle. This procedure is known as bone marrow aspiration.

Purpose of this clinical trial

The main goal of this study is to explore new treatments for sickle cell disease and thalassemia.

Eligibility overview

• At least 2 years old
• Diagnosed with sickle cell anemia or thalassemia
• No active disease, including painful crisis or active infection
• Adequate blood counts