Thalassemia Fact Sheet

Thalassemia Fact Sheet

CIRM funds a large number of research projects investigating the basic biology of blood stem cells and possible uses of those cells in treating diseases, including the thalassemias. One CIRM-funded strategic partnership focuses on preparing a therapy for beta thalassemia for clinical testing and completing a clinical trial within four years..

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Stem Cell Basics Primer | Stem Cell Videos | What We Fund

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CIRM does not track stem cell clinical trials. If you or a family member is interested in participating in a clinical trial, please see the national trial database to find a trial near you: clinicaltrials.gov

Stem cell research for thalassemia

Thalassemias are genetic diseases that most often require inheriting the defective gene from both the mother and father. The form of the disease called Beta thalassemia is most common among people of Mediterranean origin. An estimated 1,000 individuals in the U.S. are living with the disease.

Beta thalassemia is often fatal due to organ damage. But that damage is a two-step process involving the disease itself and the therapy currently used to manage it. The genetic defect causes the patients to produce red blood cells with poorly functioning hemoglobin, the protein that carries oxygen to all our tissues. To correct this, doctors give patients frequent blood transfusions. Those in turn lead to a build up of iron in their blood and if this iron is not properly filtered out, it leads to potentially lethal organ damage.

Bone marrow transplants have been used to treat people with severe forms of Beta thalassemia. The procedure can give the patients a new set of blood-forming stem cells that have the correct gene for hemoglobin, but it is very risky. It currently requires using stem cells from a donor. Such transplants also require extensive pre-treatment, such as undergoing high-dose chemotherapy or radiation, to get rid of the faulty stem cells and risk rejection by the patient’s immune system.

Research funded by California’s stem cell agency is working to develop a safer form of bone marrow transplant for these patients. They are developing a way to genetically alter the patient’s own stem cells so that they can produce red cells with the correct hemoglobin.

Strategic Partnership Award

Bluebird Bio

Researchers at this company and their collaborating clinical sites intend to remove bone marrow from people with Beta thalassemia and fix the genetic defect in the blood-forming stem cells. They will then reintroduce the modified stem cells into the patient where they are expected to produce new healthy red blood cells.

CIRM Grants Targeting Blood Diseases Including Thalassemia

Researcher name Institution Grant Title Approved funds
Fred Gage The Salk Institute for Biological Studies Development of Induced Pluripotent Stem Cells for Modeling Human Disease $1,737,720
Hanna Mikkola University of California, Los Angeles Improving microenvironments to promote hematopoietic stem cell development from human embryonic stem cells $550,241
Ann Zovein University of California, San Francisco Human endothelial reprogramming for hematopoietic stem cell therapy. $2,319,784
Tippi MacKenzie University of California, San Francisco In Utero Embryonic Stem Cell Transplantation to Treat Congenital Anomalies $2,661,742
David Davidson Bluebird Bio A Phase 1/2, Open Label Study Evaluating the Safety and Efficacy of Gene Therapy in Subjects with β-Thalassemia by Transplantation of Autologous Hematopoietic Stem Cells Transduced with the Lentiviral Vector LentiGlobin® Encoding the Human β-A-T87Q-glo $0
Donald Kohn University of California, Los Angeles Beta-Globin Gene Correction of Sickle Cell Disease in Hematopoietic Stem Cells $1,652,076
Luisa Iruela-Arispe University of California, Los Angeles Molecular Characterization and Functional Exploration of Hemogenic Endothelium $1,371,477
Inder Verma The Salk Institute for Biological Studies Development of a cell and gene based therapy for hemophilia $2,298,634
Steven Artandi Stanford University Self-renewal and senescence in iPS cells derived from patients with a stem cell disease $931,285
Fyodor Urnov Sangamo BioSciences, Inc. A Treatment For Beta-thalassemia via High-Efficiency Targeted Genome Editing of Hematopoietic Stem Cells $6,374,150
Donald Kohn University of California, Los Angeles Stem Cell Gene Therapy for Sickle Cell Disease $8,834,129
Hiromitsu Nakauchi Stanford University Generation of functional cells and organs from iPSCs $5,436,308
Lili Yang University of California, Los Angeles Differentiation of Human Hematopoietic Stem Cells into iNKT Cells $614,400
Cornelis Murre University of California, San Diego Generation of long-term cultures of human hematopoietic multipotent progenitors from embryonic stem cells $473,952
Dianne McKay University of California, San Diego Role of intracytoplasmic pattern recognition receptors in HSC engraftment $615,639
Irving Weissman Stanford University Prospective isolation of hESC-derived hematopoietic and cardiomyocyte stem cells $2,471,386
John Chute University of California, Los Angeles Niche-Focused Research: Discovery & Development of Hematopoietic Regenerative Factors $5,174,715
Inder Verma The Salk Institute for Biological Studies Curing Hematological Diseases $5,979,252
Nicholas Gascoigne Scripps Research Institute Role of Innate Immunity in hematopoeitic stem cell-mediated allograft tolerance $1,705,554
Tippi MacKenzie University of California, San Francisco Maternal and Fetal Immune Responses to In Utero Hematopoietic Stem Cell Transplantation $1,230,869
David Raulet University of California, Berkeley Inactivating NK cell reactivity to facilitate transplantation of stem cell derived tissue $952,896
Judith Shizuru Stanford University Purified allogeneic hematopoietic stem cells as a platform for tolerance induction $1,233,275
Irving Weissman Stanford University Antibody tools to deplete or isolate teratogenic, cardiac, and blood stem cells from hESCs $1,463,881
Total:
$56,083,365.00

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