Clinical Trial: Bone Marrow for Hemoglobinopathy Research

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Bone Marrow for Hemoglobinopathy Research

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.

Detailed Summary: 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.
Sponsor: St. Jude Children's Research Hospital

Current 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.


Original Primary Outcome: To develop retroviral vector mediated gene transfer as a potentially curative therapy for sickle cell anemia and β-thalassemia. The specific hypothesis to be tested is that a vector can be designed that achieves a therapeutic level of globin transgene [ Time Frame: 4 years ]

Current Secondary Outcome:

Original Secondary Outcome:

Information By: St. Jude Children's Research Hospital

Dates:
Date Received: April 28, 2008
Date Started: May 15, 2008
Date Completion: July 31, 2018
Last Updated: March 30, 2017
Last Verified: August 2016