Sickle Cell Disease Clinical Trials

Background: Blood disorders like sickle cell disease and malaria affect many people around the world. Researchers want to learn more about blood disorders. To do this, they need to collect biological samples from people with blood disorders. They also need to collect samples from healthy people. Objective: To collect samples to use for research on blood disorders. Eligibility: People ages 18-70 who have blood disorders. Healthy volunteers without blood disorders are also needed. Design: Participants will be screened with a medical history, physical exam, and blood and urine tests. Participants will give one or more samples. They will give them over 5 years. They can choose not to give any of the samples: Saliva: Participants will spit into a tube. They may also have the inside of their mouth swabbed. Urine: Participants will urinate into a cup. Blood: Blood will be taken through a needle in the participant s arm. Fat samples: An area on the participant s belly or buttock will be numbed. A small cut will be made into the skin and a small piece of fat removed. Mucus and cells from the lungs: The participant will be sedated. A flexible tube will be inserted through the nose or mouth into the lung airways. These participants will also have a physical exam, chest x-ray, and heart tests after the procedure. ... Read Less

This clinical trial is a Phase 2 study that will evaluate the safety and clinical activity of etavopivat in patients with thalassemia or sickle cell disease and test how well etavopivat works to lower the number of red blood cell transfusions required and increase hemoglobin. Read Less

An Open-label Extension Study of GBT021601 in Participants with Sickle Cell Disease Read Less

The proposed research is to determine the clinical efficacy and neurobiological mechanisms of acupuncture analgesia in patients with sickle cell disease. Read Less

The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases. This is not a therapeutic or diagnostic protocol for clinical purposes. Blood, bone marrow, hair follicles, nail clippings, urine, saliva and buccal swabs, left over tissue, as well as health information will be used to study and learn about blood diseases by using genetic and/or genomic research. In general, genetic research studies specific genes of an individual; genomic research studies the complete genetic makeup of an individual. It is not known why many people have blood diseases, because not all genes causing these diseases have been found. It is also not known why some people with the same disease are sicker than others, but this may be related to their genes. By studying the genomes in individuals with blood diseases and their family members, the investigators hope to learn more about how diseases develop and respond to treatment which may provide new and better ways to diagnose and treat blood diseases. Primary Objective: Establish a repository of DNA and cryopreserved blood cells with linked clinical information from individuals with non-malignant blood diseases and biologically-related family members, in conjunction with the existing St. Jude biorepository, to conduct genomic and functional studies to facilitate secondary objectives. Secondary Objectives: Utilize next generation genomic sequencing technologies to Identify novel genetic alternations that associate with disease status in individuals with unexplained non-malignant blood diseases. Use genomic approaches to identify modifier genes in individuals with defined monogenic non-malignant blood diseases. Use genomic approaches to identify genetic variants associated with treatment outcomes and toxicities for individuals with non-malignant blood disease. Use single cell genomics, transcriptomics, proteomics and metabolomics to investigate biomarkers for disease progression, sickle cell disease (SCD) pain events and the long-term cellular and molecular effects of hydroxyurea therapy. Using longitudinal assessment of clinical and genetic, study the long-term outcomes and evolving genetic changes in non-malignant blood diseases. Exploratory Objectives Determine whether analysis of select patient-derived bone marrow hematopoietic progenitor/stem (HSPC) cells or induced pluripotent stem (iPS) cells can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms. Determine whether analysis of circulating mature blood cells and their progenitors from selected patients with suspected or proven genetic hematological disorders can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms. Read Less

Beta-thalassemias and hemoglobinopathies are serious inherited blood diseases caused by abnormal or deficiency of beta A chains of hemoglobin, the protein in red blood cells which delivers oxygen throughout the body.The diseases are characterized by hemolytic anemia, organ damage, and early mortality without treatment. Increases in another type of (normal) hemoglobin, fetal globin (HbF), which is normally silenced in infancy, reduces anemia and morbidity. Even incremental augmentation of fetal globin is established to reduce red blood cell pathology, anemia, certain complications, and to improve survival. This trial will evaluate an oral drug discovered in a high throughput screen, which increases fetal globin protein (HbF and red blood cells expressing HbF)and messenger ribonucleic acid (mRNA) to high levels in anemic nonhuman primates and in transgenic mice. The study drug acts by suppressing 4 repressors of the fetal globin gene promoter in progenitor cells from patients. The drug has been used for 50 years in a combination product for different actions - to enhance half-life and reduce side effects of a different active drug- and is considered safe for long-term use. This trial will first evaluate 3 dose levels in small cohorts of nontransfused patients with beta thalassemia intermedia. The most active dose will then be evaluated in larger subject groups with beta thalassemia and other hemoglobinopathies, such as sickle cell disease. Read Less

Our long-term goal is to reduce stress and improve sickle cell disease (SCD) pain control with less opioid use through an intervention with self-management relaxation/distraction exercises (RDE), named You Cope, We Support (YCWS). Americans living with SCD suffer recurrent episodes of acute and chronic pain, both of which are exacerbated by stress. Building on the successes of our prior formative studies, we now propose a well-designed, appropriately powered study to test efficacy of YCWS on outcomes (pain intensity, stress intensity, opioid use) in adults with SCD. We propose to recruit 170 adults for a randomized controlled trial of the short-term (8 weeks) and long-term (6 months) effects of YCWS on outcomes (pain, stress, and opioid use). Stratified on worst pain intensity (<=5; >5), we will randomly assign patients to groups: 85 to Control (Self-monitoring of outcomes + alerts/reminders), and 85 to Experimental (Self-monitoring of outcomes + alerts/reminders + use of YCWS [RDE + Support]). We will ask participants to report outcomes daily. During weeks 1-8, we will send system-generated alerts/reminders to both groups via phone call, text, or email to facilitate data entry (both groups) and intervention use support (experimental). If the patient does not enter data after 24 hours, study support staff will contact him/her for data entry trouble-shooting (both groups) and YCWS use (experimental). We will time stamp and track participants' online activities to understand the study context and conduct exit interviews on acceptability of the staff and system-generated support. We will analyze data using mixed-effects regression models (short-term, long-term) to account for repeated measurements over time and utilize machine learning to construct and evaluate models predictive of outcomes. Specific aims are: Aim 1: To determine the short-term effects of YCWS. Aim 2: To determine the long-term effects of YCWS. Aim 3 (exploratory): Using machine learning, to develop and evaluate models that predict patient outcomes based on their group assignment and on their personal (e.g., self-efficacy, sex, education, family income, computer experience, etc.,) and environmental characteristics (e.g., distance from care, quality of cell connection, etc.). Read Less

This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS). Read Less

The objective of this study is to measure the acceptability and impact of the progestin implant on frequency of vaso-occlusive crises, quality of life, and hematologic parameters in women with SCD. Read Less

This study is a cooperative investigation funded by the NIH. The project is a collaboration among three major NIH Clinical Translational Science Awardees: 1) UCI (lead site with its affiliate CHOC), 2) Northwestern University (with its affiliate Lurie Children's Hospital), and 3) USC (with its affiliate Children's Hospital of Los Angeles). There is an increasing number of children who, through medical advances, now survive diseases and conditions that were once fatal, but which remain chronic and debilitating. A major challenge to improve both the immediate and long term care and health of such children has been the gap in our understanding of how to assess the biological effects of exercise. Like otherwise healthy children, children with chronic diseases and disabilities want to be physically active. The challenge is to determine what constitutes safe and beneficial level of physical activity when the underlying disease or condition [e.g., cystic fibrosis (CF) or sickle cell disease (SCD)] imposes physiological constraints on exercise that are not present in otherwise healthy children. Current exercise testing protocols were based on studies of athletes and high performing healthy individuals and were designed to test limits of performance at very high-intensity, unphysiological, maximal effort. These approaches are not optimal for children and adolescents with disease and disability. This project (REACH-Revamping Exercise Assessment in Child Health) is designed to address this gap. Cohorts of children will be identified with two major genetic diseases (CF and SCD) and measure exercise responses annually as they progress from early puberty to mid or late puberty over a 3-4year period. In addition, in the light of the pandemic, a group of children will be added who were affected by SARS-CoV-2 and investigate their responses to exercise. SARS-CoV-2 has similar long-term symptoms than CF and SCD have. Novel approaches to assessing physiological responses to exercise using advanced data analytics will be examined in relation to metrics of habitual physical activity, circulating biomarkers of inflammation and growth, leukocyte gene expression, and the impact of the underlying CF, SCD or SARS-CoV-2 condition. The data from this study will help to develop a toolkit of innovative metrics for exercise testing that will be made available to the research and clinical community. Read Less

There is limited information on what causes injury to the heart in individuals with Sickle Cell Disease (SCD). Researchers in this study want to see if decreased blood flow to the heart during stress could be causing the heart damage seen in SCD patients. They also want to test people who don't have SCD to see if their hearts react the same way under stress. Primary Objective To estimate the coronary flow reserve (CFR) (also referred to as myocardial perfusion reserve), as measured by PET stress-rest myocardial perfusion imaging, in SCD patients with and without diastolic dysfunction, and healthy controls. Secondary Objectives To investigate the relationship between decreased CFR (quantified with PET stress- rest myocardial perfusion imaging) and presence of abnormal diastolic parameters Read Less

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 Read Less