Sickle Cell Disease Fact Sheet

CIRM funds many projects seeking to better understand sickle cell disease and to translate those discoveries into new therapies.

Description

More than 80,000 Americans have sickle cell disease and despite decades of research the average life expectancy has dropped from 42 in 1995 to 39 today. It is a disease that largely targets the African-American community and to a lesser degree the Hispanic community.

Sickle cell disease is a genetic disorder that causes red blood cells to assume a sickle shape under stress, clogging blood vessels and producing episodes of excruciating pain, called crises, and leading to progressive organ damage. By twenty years of age about 15 percent of people with sickle cell disease have had major strokes and by 40 almost half of the patients have significant mental dysfunction.

The most common recommendation for people with sickle cell disease is to stay hydrated. The more water a person drinks, the less likely it is that their abnormal blood cells will clog their blood vessels. Another effective treatment is a medication called hydroxyurea, which reduces crises by 50 percent and death by 40 percent, but most adults are not treated. The populations most effected by sickle cell disease also suffer from significant health care disparities, which lower the quality of care they receive for their disease.

Bone marrow transplants are used to treat children with the most severe cases of the disease. In fact one of CIRM’s board members, Bert Lubin, MD, the President and CEO of Children’s Hospital and Research Center Oakland, has been a leader in developing this therapy for kids with sickle cell disease (his bio is here). The replacement bone marrow cells generate an entirely new blood system for the patient. However, bone marrow transplants are extremely risky and require a matched sibling donor and even under the best conditions there is always the risk of rejection.

Research funded by California’s stem cell agency focuses on making bone marrow transplants safer and more effective for treating people with sickle cell disease. In one project, the researchers intend to remove bone marrow from the patient and fix the genetic defect in the blood-forming stem cells. Then those cells can be reintroduced into the patient to create a new, healthy blood system. Because the cells come from the patient this technique avoids the issue of rejection. Other researchers are developing ways of making bone marrow transplants safer.

Clinical Stage Programs

University of California, Los Angeles

This team of researchers plans to remove bone marrow cells from people with sickle cell disease and fix the genetic mutation that causes the disease. The team will then reintroduce the new cells into the patient. Those cells will then generate new, healthy blood cells.

CIRM Grants Targeting Sickle Cell Disease

Researcher name Institution Grant Title Grant Type Award Amount
John Chute University of California, Los Angeles Niche-Focused Research: Discovery & Development of Hematopoietic Regenerative Factors Research Leadership $5,174,715
Tannishtha Reya University of California, San Diego Reprogramming human stem cells for blood cell generation Inception - Discovery Stage Research Projects $210,060
Tippi MacKenzie University of California, San Francisco In Utero Embryonic Stem Cell Transplantation to Treat Congenital Anomalies New Faculty Physician Scientist $2,661,742
Joseph Wu Stanford University Drug Discovery & Stem Cell Models for Cardiovascular Disease Conference Conference II $7,500
Caroline Kuo University of California, Los Angeles Targeted Gene Editing in the Treatment of X-Linked Hyper-IgM Syndrome Quest - Discovery Stage Research Projects $1,512,333
Luisa Iruela-Arispe University of California, Los Angeles Molecular Characterization and Functional Exploration of Hemogenic Endothelium Basic Biology I $1,371,477
Donald Kohn University of California, Los Angeles Beta-Globin Gene Correction of Sickle Cell Disease in Hematopoietic Stem Cells Early Translational IV $1,652,076
David Traver International Society for Experimental Hematology International Society for Experimental Hematology, 45th Annual Scientific Meeting Conference II $25,000
Naynesh Kamani American Association of Blood Banks 15th International Cord Blood Sympsium Conference II $30,000
Steven Artandi Stanford University Self-renewal and senescence in iPS cells derived from patients with a stem cell disease Basic Biology II $931,285
Inder Verma Salk Institute for Biological Studies Development of a cell and gene based therapy for hemophilia Early Translational IV $2,298,634
Naynesh Kamani American Association of Blood Banks 14th International Cord Blood Symposium: Give Life Twice Conference II $15,000
Tippi MacKenzie University of California, San Francisco In Utero Hematopoietic Stem Cell Transplantation For The Treatment Of Fetuses With Alpha Thalassemia Major Clinical Trial Stage Projects $10,906,978
Donald Kohn University of California, Los Angeles Stem Cell Gene Therapy for Sickle Cell Disease Disease Team Research I $8,833,695
Fyodor Urnov Sangamo BioSciences, Inc. A Treatment For Beta-thalassemia via High-Efficiency Targeted Genome Editing of Hematopoietic Stem Cells Strategic Partnership II $2,760,540
Dionicio Siegel University of California, San Diego New Methods for the Chemical Expansion of Hematopoietic Stem and Progenitor Cells Inception - Discovery Stage Research Projects $232,200
Matthew Porteus Stanford University Genome Editing of Autologous Hematopoietic Stem Cells to Treat Sickle Cell Disease Late Stage Preclinical Projects $4,849,363
Fred Gage Salk Institute for Biological Studies Development of Induced Pluripotent Stem Cells for Modeling Human Disease New Cell Lines $1,737,720
Donald Kohn University of California, Los Angeles Clinical Trial of Stem Cell Gene Therapy for Sickle Cell Disease Disease Team Therapy Development III $13,145,465
Marcus Muench Blood Systems Research Institute Modulating Liver Sinusoidal Endothelial Cell Permeability to Enhance Engraftment of Endothelial Cell Progenitors for the Treatment of Hemophilia A Inception - Discovery Stage Research Projects $180,000
Mark Walters Children's Hospital of Oakland Research Institute University of California, San Francisco (UCSF) CIRM Alpha Stem Cell Clinic Alpha Stem Cell Clinics Network Expansion $7,999,999
Cornelis Murre University of California, San Diego Generation of long-term cultures of human hematopoietic multipotent progenitors from embryonic stem cells SEED Grant $473,952
Hiromitsu Nakauchi Stanford University Generation of functional cells and organs from iPSCs Research Leadership $5,427,512
Jennifer Puck University of California, San Francisco Ex Vivo Transduction of the Human Artemis (DCLRE1C) cDNA by Lentiviral Vector AProArt into CD34+ Hematopoietic Cells for Artemis (ART)-Deficient Severe Combined Immunodeficiency (SCID) Late Stage Preclinical Projects $4,268,865
Michael Pulsipher Children's Hospital of Los Angeles Antiviral Cellular Therapy for Enhancing T-cell Reconstitution Before or After Hematopoietic Stem Cell Transplantation (ACES) Clinical Trial Stage Projects $4,825,587
Irving Weissman Stanford University Prospective isolation of hESC-derived hematopoietic and cardiomyocyte stem cells Comprehensive Grant $2,471,386
Lili Yang University of California, Los Angeles Differentiation of Human Hematopoietic Stem Cells into iNKT Cells Basic Biology V $614,400
Mark Walters Children's Hospital of Oakland Research Institute Curing Sickle cell Disease with CRISPR-Cas9 genome editing Therapeutic Translational Research Projects $4,463,435
Hiromitsu Nakauchi Stanford University Optimizing self-renewal signaling kinetics to stabilize ex vivo hematopoietic stem cell expansion Inception - Discovery Stage Research Projects $210,906
Inder Verma Salk Institute for Biological Studies Curing Hematological Diseases Early Translational I $5,979,252
Dianne McKay University of California, San Diego Role of intracytoplasmic pattern recognition receptors in HSC engraftment Basic Biology V $615,639
Donald Kohn Children's Hospital of Los Angeles STEM CELL GENE THERAPY FOR SICKLE CELL DISEASE Disease Team Planning $12,131
Donald Kohn University of California, Los Angeles Efficacy and safety of cryopreserved autologous CD34+ HSC transduced with EFS lentiviral vector encoding for human ADA gene in ADA-SCID subjects Clinical Trial Stage Projects $10,056,424
Saswati Chatterjee City of Hope, Beckman Research Institute Genome Editing of Sinusoidal Endothelial Stem Cells for Permanent Correction of Hemophilia A Quest - Discovery Stage Research Projects $2,182,193
Nicholas Gascoigne Scripps Research Institute Role of Innate Immunity in hematopoeitic stem cell-mediated allograft tolerance Transplantation Immunology $1,705,554
Hanna Mikkola University of California, Los Angeles Improving microenvironments to promote hematopoietic stem cell development from human embryonic stem cells SEED Grant $550,241
Rosa Bacchetta Stanford University GENE EDITING FOR FOXP3 IN HUMAN HSC Quest - Discovery Stage Research Projects $984,228
Joseph Rosenthal City of Hope, Beckman Research Institute Treatment of sickle cell disease by induction of mixed chimerism and immune tolerance using CD4+ T-depleted haploidentical blood stem cell transplant Clinical Trial Stage Projects $5,742,180
Tippi MacKenzie University of California, San Francisco Maternal and Fetal Immune Responses to In Utero Hematopoietic Stem Cell Transplantation Transplantation Immunology $1,230,869
John Zaia City of Hope, Beckman Research Institute The Innovation-Alpha Clinic for Cellular Therapies (I-ACT) – A Program for the Development and Delivery of Innovative Cell-based Treatments and Cures for Life-threatening Diseases. Alpha Stem Cell Clinics $8,000,000
John Chute University of California, Los Angeles Protein tyrosine phosphatase - sigma inhibitors for hematopoietic regeneration Quest - Discovery Stage Research Projects $2,116,708
Morton Cowan University of California, San Francisco Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency Using a Lentiviral Vector to Transduce Autologous CD34 Hematopoietic Stem Cells Clinical Trial Stage Projects $12,000,000
David Raulet University of California, Berkeley Inactivating NK cell reactivity to facilitate transplantation of stem cell derived tissue Transplantation Immunology $952,896
Hanna Mikkola University of California, Los Angeles A suite of engineered human pluripotent stem cell lines to facilitate the generation of hematopoietic stem cells Tools and Technologies III $1,382,400
Brian Black University of California, San Francisco Weinstein Cardiovascular Development Conference Conference $35,000
Ed Conner Sangamo BioSciences, Inc. A Phase 1/2 Study to Assess the Safety, Tolerability, and Efficacy of ST-400 Autologous HSPC Transplant in Transfusion-dependent β-Thalassemia Clinical Trial Stage Projects $8,000,000
Judith Shizuru Stanford University Purified allogeneic hematopoietic stem cells as a platform for tolerance induction Transplantation Immunology $1,233,275
Irving Weissman Stanford University Identification and isolation of transplantable human hematopoietic stem cells from pluripotent cell lines; two steps from primitive hematopoiesis to transplantable definitive cells, and non-toxic conditioning of hosts for hematopoeitic stem cell transp... Tools and Technologies III $1,271,952
Alice Tarantal University of California, Davis 11th Annual Gene Therapy Symposium for Heart, Lung, and Blood Diseases Conference $16,850
Andrea Spezzi Orchard Therapeutics Limited Efficacy and safety of cryopreserved autologous CD34+ HSC transduced with EFS lentiviral vector encoding for human ADA gene in ADA-SCID subjects Clinical Trial Stage Projects $8,465,745
Hanna Mikkola University of California, Los Angeles Mechanisms of Hematopoietic stem cell Specification and Self-Renewal New Faculty I $2,286,900
Andrew Leavitt University of California, San Francisco Small molecule tools and scale-up technologies to expand human umbilical cord blood stem and progenitor cells for clinical and research use Tools and Technologies III $1,416,600
Alice Tarantal University of California, Davis 9th Annual Gene Therapy Symposium for Heart, Lung and Blood Diseases Conference $12,000
Cassandra Calloway Children's Hospital of Oakland Research Institute Development of a Noninvasive Prenatal Test for Beta-Hemoglobinopathies for Earlier Stem Cell Therapeutic Interventions Diagnostic Translational Research Projects $1,721,606
Irving Weissman Stanford University Antibody tools to deplete or isolate teratogenic, cardiac, and blood stem cells from hESCs Tools and Technologies II $1,463,814
Matthew Porteus Stanford University Pre-clinical development of gene correction therapy of hematopoietic stem cells for SCID-X1 Preclinical Development Awards $874,877
Alice Tarantal University of California, Davis 10th Annual Gene Therapy Symposium for Heart, Lung, and Blood Diseases Conference $18,300
Judith Shizuru Stanford University A monoclonal antibody that depletes blood stem cells and enables chemotherapy free transplants Disease Team Therapy Development - Research $19,068,382
Donald Kohn University of California, Los Angeles A Phase I/II, Non Randomized, Multicenter, Open-Label Study of G1XCGD (Lentiviral Vector Transduced CD34+ Cells) in Patients With X-Linked Chronic Granulomatous Disease Clinical Trial Stage Projects $7,083,364
Brian Sorrentino St. Jude Children's Research Hospital Lentiviral Gene Therapy for Infants with X-linked Severe Combined Immunodeficiency using Autologous Bone Marrow Stem Cells and Busulfan Conditioning Clinical Trial Stage Projects $11,924,780
Ann Zovein University of California, San Francisco Human endothelial reprogramming for hematopoietic stem cell therapy. New Faculty Physician Scientist $2,319,784
Total:
$210,015,769.00

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