Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders
The primary objectives of this prospective mixed-method interview study are to use semi-structured interviews in parents of sickle cell disease (SCD) patients to describe parental attitudes of research involving genomic sequencing, including concerns about participation and expectations from researchers and second, to use surveys to quantitatively measure genetic/genomic knowledge, trust in health care provider, and literacy/numeracy ability in parents of children with SCD and adolescents with SCD. Secondary objectives are development of a web-based tool about treatment options for SCD that fosters patient-clinician communication and promotes shared decision-making. The web-based tool will undergo usability and pilot testing to ensure it is accessible to families and provide data about strategies for integrating into clinical conversations about treatment options. Investigators will use the data generated to reduce the risk of misunderstanding about DNA and genetic research and build strong relationships between SCD families and researchers in the future. The project will design educational information and study materials to help parents of children with SCD understand important details about genomic medicine in SCD care.
Evaluation of Efficacy and Safety of a Single Dose of Exa-cel in Participants With Severe Sickle Cell Disease, βS/ βC Genotype
The purpose of the study is to evaluate the efficacy and safety of CTX001 (exa-cel) in adolescent and adult participants with severe sickle cell disease (SCD), βS/βC genotype (HbSC).
A Long-term Follow-up Study in Participants Who Received CTX001
This is a multi-site, open- label rollover study to evaluate the long-term safety and efficacy of CTX001 in pediatric and adult participants who received CTX001 in parent studies 111 (NCT03655678) 141 (NCT05356195) or 161 (NCT05477563) (transfusion-dependent β-thalassemia \[TDT\] studies) or Study 121 (NCT03745287) or 151 (NCT05329649) or 161(NCT05477563) (severe sickle cell disease \[SCD\] studies).
Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease
This is a single-dose, open-label study in participants with transfusion-dependent β-thalassemia (TDT) or severe sickle cell disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) using CTX001.
Gene Correction in Autologous CD34+ Hematopoietic Stem Cells (HbS to HbA) to Treat Severe Sickle Cell Disease
This study is a first-in-human, single-arm, open-label Phase I/II study of nula-cel in approximately 15 participants, diagnosed with severe Sickle Cell Disease. The primary objective is to evaluate safety of the treatment in this patient population, as well as preliminary efficacy and pharmacodynamic data.
Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Severe Sickle Cell Disease (SCD)
This is a single-dose, open-label study in pediatric participants with severe SCD and hydroxyurea (HU) failure or intolerance. The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) (CTX001).
Safety and Efficacy of Gene Therapy of the Sickle Cell Disease by Transplantation of an Autologous CD34+ Enriched Cell Fraction That Contains CD34+ Cells Transduced ex Vivo With the GLOBE1 Lentiviral Vector Expressing the βAS3 Globin Gene in Patients With Sickle Cell Disease (DREPAGLOBE)
The purpose of this study is to evaluate the Safety and Efficacy of Gene Therapy of the Sickle Cell disease by Transplantation of an Autologous CD34+ enriched cell fraction that contains CD34+ cells transduced ex vivo with the GLOBE1 lentiviral vector expressing the βAS3 globin gene (GLOBE1 βAS3 Modified Autologous CD34+ Cells) in Patients with Sickle Cell Disease (SCD)
Efficacy Safety Study of Gene Therapy for Sickle Cell DiseaseSCD Using Autologous CD34+ Cells Transduced ex Vivo, Carrying a Corrected Globin Gene and a Silencing RNA.
The purpose of this study is to evaluate the Safety and Efficacy of DREAM01, a gene therapy for Sickle Cell Disease (SCD). The therapy consists of transplanting autologous CD34+ cells transduced ex vivo with a bifunctional lentiviral vector expressing βAS3m-globin and an anti-βS miRNA. It aims to reduce or eliminate vaso-occlusive events and long-term organ damage in severe SCD patients lacking a Human Leukocyte Antigen (HLA) identical sibling donor.
Safety and Efficacy of KL003 Cell Injection in Severe Sickle Cell Disease
It is a single-arm, single-center, open-label, single-dose study. A total of three subjects with severe sickle cell disease (SCD), aged 12-50 years (inclusive), are planned to receive cell infusion. After successful hematopoietic stem cell engraftment is achieved in the first subject, cell infusion will be initiated for subsequent subjects.
CS-206 in Patients With Sickle Cell Disease
The goal of this open label, single-arm clinical study is to learn about the safety and efficacy of CS-101 injection in treating sickle cell disease.
Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Severe β-Hemoglobinopathies
A promising approach for the treatment of genetic diseases is called gene therapy. Gene therapy is a relatively new field of medicine that uses genetic material (mostly DNA) from the patient to treat his or her own disease. In gene therapy, the investigators introduce new genetic material in order to fix or replace a diseased gene, with the goal of curing the disease. The procedure is similar to a bone marrow transplant, in that the patient's malfunctioning blood stem cells are reduced or eliminated using chemotherapy, but it is different because instead of using a different person's (donor) blood stem cells for the transplant, the patient's own blood stem cells are given back after the new genetic material has been introduced into those cells. This approach has the advantage of eliminating any risk of Graft-Versus-Host Disease (GVHD), reducing the risk of graft rejection, and may also allow less chemotherapy to be utilized for the conditioning portion of the transplant procedure. The method used to fix or replace a diseased gene is called gene editing. A person's own cells are edited using a specialized biological medicine that has been formulated for use in human beings. Fetal hemoglobin (HbF) is a healthy, non-sickling kind of hemoglobin. Investigators have recently discovered a gene called BCL11A that is very important in the control of fetal hemoglobin expression. Increasing the expression of this gene in sickle cell patients could increase the amount of fetal hemoglobin while simultaneously reducing the amount of sickle hemoglobin in their blood, and therefore potentially cure the condition.
Cooperative Assessment of Late Effects for SCD Curative Therapies
Sickle Cell Disease is one of the most common genetic diseases in the United States, occurring in approximately 1 in 400 births. Approximately 100,000 individuals are diagnosed with SCD in the United States. Mortality for children with SCD has decreased substantially over the past 4 decades, with \>99% of those born in high resource settings, including the United States, France, and England, now surviving to 18 years of age. However, the life expectancy of adults with SCD is severely shortened. Dysfunction of the heart, lung, and kidney is directly associated with decreased life expectancy. With the variety of curative therapies that are now available for SCD, long-term health outcomes studies are time-sensitive. As of now, efforts to determine long-term health outcomes following curative therapies for SCD have been limited. Though curative therapies initially should provide a cure for symptoms of SCD, there is the risk of late health outcomes to consider. Defining health outcomes following curative therapy is essential to improve personalized decision-making when considering curative versus disease-modifying therapeutic options. The primary goal of this study is to determine whether curative therapies for individuals with SCD will result in improved or worsening heart, lung, and kidney damage when compared to individuals with SCD receiving standard therapy. The investigators will also explore whether certain genes are associated with a good or bad outcome after curative therapy for SCD.
ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders
In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.2,3,4,5 In 2019 alone, the FDA has issued approvals for 24 new therapies for congenital and acquired hematologic conditions.6 In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.7 With this increase in potential new therapies possible, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data. As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.8
Gene Transfer for Sickle Cell Disease
A promising approach for the treatment of genetic diseases is called gene therapy. Gene therapy is a relatively new field of medicine that uses genetic material (mostly DNA) from the patient to treat his or her own disease. In gene therapy, the investigators introduce new genetic material in order to fix or replace the patient's disease gene, with the goal of curing the disease. The procedure is similar to a bone marrow transplant, in that the patient's malfunctioning blood stem cells are reduced or eliminated using chemotherapy, but it is different because instead of using a different person's (donor) blood stem cells for the transplant, the patient's own blood stem cells are given back after the new genetic material has been introduced into those cells. This approach has the advantage of eliminating any risk of GVHD, reducing the risk of graft rejection, and may also allow less chemotherapy to be utilized for the conditioning portion of the transplant procedure. The method used to introduce the gene into the patient's own blood stem cells is to engineer and use a modified version of a virus (called a 'vector') that efficiently inserts the "correcting" genetic material into the cells. The vector is a specialized biological medicine that has been formulated for use in human beings. The investigators have recently discovered a gene that is very important in the control of fetal hemoglobin expression. Increasing the expression of this gene in sickle cell patients could increase the amount of fetal hemoglobin while simultaneously reducing the amount of sickle hemoglobin in their blood, and therefore potentially cure the condition. In summary, the advantages of a gene therapy approach include: 1) it can be used even if the patient does not have a matched donor available; 2) it may allow a reduction in the amount of chemotherapy required to prepare the patient for the transplant; and 3) it will avoid the strong medicines often required to prevent and treat GVHD and rejection. The goal is to test whether this approach is safe, and whether using gene therapy to change the expression of this particular gene will lead to increased fetal hemoglobin production in people with sickle cell disease.
Study of Safety and Efficacy of Genome-edited Hematopoietic Stem and Progenitor Cells in Sickle Cell Disease (SCD)
This study evaluated a genome-edited, autologous, hematopoietic stem and progenitor cell (HSPC) product - OTQ923 to reduce the biologic activity of BCL11A, increasing fetal hemoglobin (HbF) and reducing complications of sickle cell disease.
Stem Cell Gene Therapy for Sickle Cell Disease
This Phase I clinical trial will assess the safety and initial evidence for efficacy of an autologous transplant of lentiviral vector modified peripheral blood for adults with severe sickle cell disease.
BEACON: A Study Evaluating the Safety and Efficacy of BEAM-101 in Patients With Severe Sickle Cell Disease
This is an open-label, single-arm, multicenter, Phase 1/2 study evaluating the safety and efficacy of the administration of autologous base edited CD34+ HSPCs (BEAM-101) in patients with severe SCD
A Pilot Study on Neuroimaging in SCD: Part of The Boston Consortium to Cure Sickle Cell Disease
Sickle Cell Disease (SCD) impairs oxygen transport to tissue and causes endothelial injury. Thus, therapeutic interventions aim to improve both, but there is an unmet need for biomarkers to determine when intervention is necessary and evaluate the effectiveness of the chosen intervention in individual patients. This study proposes to monitor SCD and its treatment through their impact on cerebral hemodynamics, as the brain is one of the most vulnerable and consequential targets of the disease. Specifically, this study will optimize quantitative magnetic resonance imaging (MRI) and advanced optical spectroscopy techniques such as frequency-domain near-infrared and diffuse correlation spectroscopies (FDNIRS-DCS) to monitor 1) cerebral oxygen transport with measures of cerebral blood flow (CBF), cerebral oxygen extraction fraction (OEF) and cerebral metabolic rate of oxygen consumption (CMRO2) and 2) endothelial function with cerebrovascular reactivity (CVR). Additionally, this study aims to monitor baseline cerebral oxygen transport and CVR, as well as changes that occur with treatment (transfusion or genetic therapy to induce fetal hemoglobin) and assess hemoglobinopathy patients with known genotypes and phenotypes. The ultimate goal is to demonstrate the potential of this monitoring approach to select individual SCD subjects for interventions and evaluate individual responses to treatment. Success will help justify inclusion of these modalities in ongoing and future clinical trials of novel SCD therapies.
Gene Editing For Sickle Cell Disease
This study is being done to test the safety of a new treatment called gene editing in Sickle Cell Disease (SCD) patients and to see if a single dose of this genetically modified cellular product will increase the amount of a certain hemoglobin called fetal hemoglobin (HbF) and help reduce the symptoms of SCD. Primary Objective * To assess the safety of autologous infusion of clustered regularly interspaced palindromic repeats (CRISPR)/ CRISPR associated protein (Cas9)-edited CD34+ hematopoietic stem and progenitor cells (HSPCs) in patients with severe SCD. Secondary Objective * To assess the efficacy autologous infusion of CRISPR/Cas9 genome-edited CD34+ HSPCs into patients with severe SCD.
Long - Term Follow Up of Sickle Cell Disease and Beta-thalassemia Subjects Previously Exposed to BIVV003 or ST-400.
Primary Objectives: Long-term safety of BIVV003 in participants with severe sickle cell disease (SCD) and ST- 400 in participants with transfusion-dependent beta-thalassemia (TDT) Secondary Objectives: * Long-term efficacy of the biological treatment effect of BIVV003 in SCD * Long-term efficacy of the clinical treatment effect of BIVV003 on SCD-related clinical events * Long-term efficacy of the biological treatment effect of ST-400 in TDT * Long-term efficacy of the clinical treatment effect of ST-400 in TDT
Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)
This prospective mixed-method interview study aims to qualitatively describe the beliefs, attitudes, and informational needs around gene therapy for rare pediatric diseases among patients and parents of children with a rare disease targeted for treatment using gene therapy techniques. Using learned insights, the team will develop an online platform providing educational content and patient decision aids for patients and their families.
Long-term Follow-up (LTFU) of Patients Treated With Genome-edited Autologous Hematopoietic Stem and Progenitor Cells (HSPC)
CADPT03A12001 is a prospective, multi-center study that is designed to follow all enrolled patients who have received treatment with OTQ923 for long-term safety and efficacy.
Safety of Blood Stem Cell Mobilization With Plerixafor in Patients With Sickle Cell Disease
The objective of this study is to investigate if up to two injections of plerixafor represent a safe and effective strategy to mobilize adequate numbers of CD34+ hematopoietic stem progenitor cells (HSPC) for autologous hematopoietic cell transplantation (HCT) in sickle cell disease (SCD) patients
A Safety and Efficacy Study Evaluating CTX001 in Subjects With Severe Sickle Cell Disease
This is a single-arm, open-label, multi-site, single-dose Phase 1/2/3 study in subjects with severe sickle cell disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (hHSPCs) using CTX001.
Motixafortide and Natalizumab to Mobilize CD34+ Hematopoietic Stem Cells for Gene Therapies in Sickle Cell Disease (SCD)
Hematopoietic stem cell (HSC)-based gene therapies now offer curative potential for patients with sickle cell disease (SCD), with decreased toxicity compared to allogeneic hematopoietic cell transplantation. However, effective HSC-based gene therapy depends on collecting sufficient HSCs to generate the therapeutic product, and currently available mobilization regimens carry unacceptable risk for patients with SCD or do not reliably yield optimal numbers of HSCs for gene therapy. The investigators hypothesize that HSC mobilization with motixafortide (CXCR4i) alone and the combination of motixafortide plus natalizumab (VLA-4i) will be safe and tolerable in SCD patients. In addition, the investigators hypothesize that combined CXCR4 and VLA-4 blockade with motixafortide plus natalizumab will result in a rapid, robust, and synergistic increase in HSC mobilization to peripheral blood (PB) in patients with SCD, when compared to motixafortide alone.
CS-206 in Patients With Sickle Cell Disease
The goal of this open label, single-arm clinical study is to learn about the safety and efficacy of CS-206 injection in treating sickle cell disease.
A Gene Transfer Study Inducing Fetal Hemoglobin in Sickle Cell Disease (GRASP, BMT CTN 2001)
A promising approach for the treatment of genetic diseases is called gene therapy. Gene therapy is a relatively new field of medicine in which genetic material (mostly DNA) in the patient is changed to treat his or her own disease. In gene therapy, we introduce new genetic material in order to fix or replace the patient's disease gene, with the goal of curing the disease. The procedure is similar to a bone marrow transplant, in that the patient's malfunctioning blood stem cells are reduced or eliminated using chemotherapy, but it is different because instead of using a different person's (donor) blood stem cells for the transplant, the patient's own blood stem cells are given back after the new genetic material has been introduced into those cells. This approach has the advantage of eliminating any risk of graft versus host disease (GVHD), reducing the risk of graft rejection, and may also allow less chemotherapy to be utilized for the conditioning portion of the transplant procedure. To introduce new genetic material into the patient's own blood stem cells we use a modified version of a virus (called a 'vector') that efficiently inserts the "correcting" genetic material into the cells. The vector is a specialized biological medicine that has been formulated for use in human beings. Fetal hemoglobin (HbF) is a healthy, non-sickling kind of hemoglobin. The investigators have discovered a gene that is very important in controlling the amount of HbF. Decreasing the expression of this gene in sickle cell patients could increase the amount of fetal hemoglobin while simultaneously reducing the amount of sickle hemoglobin in their blood, specifically the amount in red blood cells where sickle hemoglobin causes damage to the cell, and therefore potentially cure or significantly improve the condition. The gene we are targeting for change in this study that controls the level of fetal hemoglobin is called BCL11A. In summary, the advantages of a gene therapy approach include: 1) it can be used even if the patient does not have a matched donor available; 2) it may allow a reduction in the amount of chemotherapy required to prepare the patient for the transplant; and 3) it will avoid certain strong medicines often required to prevent and treat GVHD and rejection. Our lab studies with normal mice, mice that have a form of SCD, and with cells from the bone marrow of SCD patients who have donated bone marrow for research purposes show this approach is very effective in reducing the amount of sickle hemoglobin in red cells. Our pilot trial testing this approach in 10 patients with SCD has shown that the treatment has not caused any unexpected safety problems, and that it increases HbF within the red blood cells. Our goal is to continue to test whether this approach is safe, and whether using gene therapy to change the expression of BCL11A will lead to decreased episodes of vaso-occlusive crisis pain in people with SCD.
A Long-Term Follow-Up Study of Participants With Sickle Cell Disease or Transfusion Dependent β-Thalassemia Who Received EDIT-301
The purpose of this study is to evaluate the long-term safety and efficacy of EDIT-301 in participants with severe sickle cell disease (SCD) or transfusion-dependent β-thalassemia (TDT) who have received EDIT-301.
Escalation of Plerixafor for Mobilization of CD34+ Hematopoietic Progenitor Cells and Evaluation of Globin Gene Transfer in Patients With Sickle Cell Disease
The purpose of this research study is to test the safety and efficacy of a drug called Plerixafor. Plerixafor is approved by the US FDA for use in increasing blood stem cell counts before collection in cancer patients. It is not yet approved for patients with sickle cell disease. The investigators want to find out if Plerixafor can be used to increase cell counts in patients with sickle cell disease.
Long-term Follow-up of Subjects with Sickle Cell Disease Treated with Ex Vivo Gene Therapy
This is a multi-center, long-term safety and efficacy follow-up study for subjects with sickle cell disease who have been treated with ex vivo gene therapy drug product in bluebird bio-sponsored clinical studies. After completing the parent clinical study (approximately 2 years), eligible subjects will be followed for an additional 13 years for a total of 15 years post-drug product infusion. No investigational drug product will be administered in the study.
A Study Evaluating the Safety and Efficacy of Lovo-cel in Severe Sickle Cell Disease
This is a non-randomized, open label, multi-site, single dose, Phase 1/2 study in approximately 50 adults and adolescents with severe SCD. The study will evaluate hematopoietic stem cell and progenitor stem cell (collectively referred to as hematopoietic stem and progenitor cells or HSPCs) transplantation using lovo-cel.
A Study Evaluating Gene Therapy With BB305 Lentiviral Vector in Sickle Cell Disease
This is a non-randomized, open-label, multi-site, single-dose, Phase 3 study in approximately 35 adults and pediatric subjects ≥2 and ≤50 years of age with sickle cell disease (SCD). The study will evaluate hematopoietic stem cell (HSC) transplantation (HSCT) using bb1111 (also known as LentiGlobin BB305 Drug Product for SCD).
Investigation Into the Use of BAH243 Lentiviral Vector for Gene Therapy in Treating Sickle Cell Disease
This study is an open-label, non-randomized, single-dose Phase 1/2 trial involving around 85 adult and pediatric participants aged between 2 and 50 years with sickle cell disease (SCD). It aims to assess the effectiveness of hematopoietic stem cell transplantation (HSCT) using BAH243 for SCD.
Decision-Making and Quality of Life Surrounding Hematologic Disease and Gene Therapy
Determine knowledge, attitudes, and beliefs among adult patients, and parents of pediatric patients, with transfusion dependent beta-thalassemia and sickle cell disease toward gene therapy to treat their or their child's illness, and to assess the likely impact of gene therapy on patients' quality of life.
Transplantation of Clustered Regularly Interspaced Short Palindromic Repeats Modified Hematopoietic Progenitor Stem Cells (CRISPR_SCD001) in Patients with Severe Sickle Cell Disease
This is an open label, non-randomized, 2-center, phase 1/2 trial of a single infusion of sickle allele modified cluster of differentiation (CD34+) hematopoietic stem progenitor cells (HSPCs) in subjects with in subjects ≥12 years old to 35 years old severe Sickle Cell Disease (SCD). The study will evaluate the hematopoietic stem cell transplantation (HSCT) using CRISPR/Cas9 edited red blood cells (known as CRISPR\_SCD001 Drug Product).
Clinical Study of BRL-101 in Severe SCD
This is a single center, non-randomized, open label, single-dose study in subjects with Sickle Cell Disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) (BRL-101).
Clinical Study on the Safety and Efficacy of BRL-101 in the Treatment of Sickle Cell Disease
This is a single center, non-randomized, open label, single-dose study in subjects with Sickle Cell Disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) (BRL-101)
Gene Transfer for Patients With Sickle Cell Disease
The purpose of this Phase 1/2 study is to determine the feasibility and safety of stem cell collection and gamma-globin gene transfer, and success of gene correction in subjects with sickle cell disease
Clinical Study of BRL-101 in the Treatment of Sickle Cell Disease
This is a single center, non-randomized, open label, single-dose study in subjects with Sickle Cell Disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) (BRL-101).
A Study Evaluating the Safety and Efficacy of LentiGlobin BB305 Drug Product in β-Thalassemia Major (Also Referred to as Transfusion-dependent β-Thalassemia [TDT]) and Sickle Cell Disease
This is a Phase 1/2, open label, safety, and efficacy study of the administration of LentiGlobin BB305 Drug Product to participants with either transfusion dependent beta-thalassemia (TDT) or sickle cell disease (SCD).
CSL200 Gene Therapy in Adults With Severe Sickle Cell Disease
This is a phase 1 pilot study of CSL200 in adult subjects with severe sickle cell disease. The primary objectives of this study are to evaluate the safety of the following: collection of CD34+ hematopoietic stem / progenitor cells by apheresis after mobilization with plerixafor, reduced intensity conditioning with melphalan, and administration of CSL200.
Examining the Knowledge, Attitudes, and Beliefs of Sickle Cell Disease Patients, Parents of Patients With Sickle Cell Disease, and Providers Towards the Integration of CRISPR in Clinical Care
Background: Sickle cell disease (SCD) is caused by a genetic defect that affects how hemoglobin is made. Due to this, people with SCD have abnormally-shaped red blood cells, which can result in poor oxygen transport in the body and increase risk of blood clots. CRISPR Cas9 is a new tool which allows scientists to snip and edit genes in a way that is faster, cheaper, and more precise than other gene-editing tools. Recently, research has been done using CRISPR Cas9 to correct the sickle cell gene in animal models and human cells. Researchers want to understand the views of those with SCD, parents of people with SCD, and the providers of these patients regarding use of CRISPR Cas9 in clinical trials and treatment. Objectives: To study the attitudes, beliefs, and opinions of those with SCD, parents of those with SCD, and providers on the use of CRISPR Cas9 gene-editing. An additional purpose of this study is to assess the utility of an educational tool for improving understanding of CRISPR Cas9. Eligibility: People ages 18 and older who speak English and either have SCD, are a parent of someone with SCD, or are a physician for people with SCD. Design: Participants will be screened via phone. Those with SCD will be screened with data from their SCD genotype. Participation lasts about 2 hours. Participants will fill out three surveys. Participants will watch a video about CRISPR Cas9. Participants will engage in a focus group session. This will be audiotaped and analyzed. The data from the survey questions and focus groups may be used for future research. However, all personally identifiable information will be removed before data is shared. Participants data will be identified with a code number instead of their name. Participants may be invited to join future studies of SCD.
Motivations, Expectations, and Decision-making of Sickle Cell Patients in Clinical Research
Background: Sickle cell disease is an inherited blood disorder. People with this disease have a problem with their hemoglobin. That is a protein in red blood cells that carries oxygen in the body. Some people with this disease are enrolled in research at NIH. Researchers want to learn more about the thoughts and opinions of those people. This may improve the way researchers explain clinical studies, risks, and benefits to people with the disease. Objective: To learn about the motivations, decisions, and experiences in clinical research of people with sickle cell disease. Eligibility: Adults ages 18 and older who have sickle cell disease. They must be in an NIH study on this condition. They must have been invited to join either a gene therapy or peripheral blood stem cell transplantation study. Design: Participants will have 1 interview. It will be done in a quiet room in the NIH Clinical Center or by video call. It will take about 60 minutes. The interview will be audio-recorded if the participant agrees. Participants will be asked about: * Their experiences with and thoughts on sickle cell disease * Their decision to participate in clinical research * Factors that may have affected their decision to participate. These may include family, disease history, or faith. Participants may complete a few brief questionnaires.
Bone Marrow for Hemoglobinopathy Research
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.