17 Clinical Trials for Various Conditions
This study will investigate the role of genetic modifiers in hemoglobinopathies through a large-scale, multi-ethnic genome-wide association study (GWAS).
The investigators aims to evaluate the safety of in utero hematopoietic stem cell transplantation in fetuses with alpha-thalassemia major performed at the time of in utero transfusion of red blood cells.
This is an international prospective registry of patients with Alpha thalassemia to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with Alpha thalassemia.
Background: Alpha thalassemia is a blood disorder. It is caused by genetic deletions. Part of the DNA is missing from a group of genes called alpha globin. Alpha thalassemias are some of the most common genetic deletions. We are testing for alpha thalassemia trait. Alpha thalassemia trait is when someone has only two out of the normal four alpha globin genes. In some people, they lead to no symptoms. Others have changes that lead to disease, including mild anemia. Researchers want to learn more about alpha thalassemia and blood vessels. This may allow them to develop new treatments for blood diseases such as sickle cell disease. Objective: To better understand how alpha globin deletions in healthy people affect blood vessels. Eligibility: Healthy volunteers ages 18-39 who self-report African ancestry. Design: Participants will provide a one-time saliva sample. This can be by mail, in-person at a study event, or at NIH. Participants will get a small kit to collect their saliva sample. The kit has easy instructions. The sample does not need to be put in the refrigerator. Participants will spit a small amount of saliva (less than half a teaspoon) into a collection tube. Participants will close the funnel lid tightly, and then unscrew the funnel lid from the tube. They will then close the tube tightly with the small cap provided and shake the tube for 5 seconds. Participants will place the tube in the provided envelope and mail it to NIH. The specimen will be stored and processed in the lab. Participants may be invited to participate in more research studies, whether or not researchers find that they have alpha thalassemia trait.
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via electronic health information exchanges. Patients and their treating physicians may also optionally provide medical records. Medical records are received in or converted to electronic/digitized formats (CCDA, FHIR, PDF), sorted by medical record type (clinic visit, in-patient hospital, out-patient clinic, infusion and out-patient pharmacies, etc.) and made machine-readable to support data annotation, full text searches, and natural language processing (NLP) algorithms to further facilitate feature identification.
The primary objective of this study was to compare the effect of mitapivat versus placebo on transfusion burden in participants with α- or β-transfusion-dependent thalassemia.
The primary purpose of this study was to compare the effect of mitapivat versus placebo on hemolytic anemia in participants with alpha- or beta-non-transfusion dependent thalassemia (NTDT).
The goal of this research study is to establish chimerism and avoid graft-versus-host disease in patients with hemoglobinopathies.
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.
CICL670A2209: This study will evaluate the safety and efficacy of deferasirox in non-transfusion dependent thalassemia patients with iron overload. Patients will be treated either with active treatment (deferasirox) or placebo for 12 months (core study phase). Patients who complete the core study phase will be offered to continue their study with the active treatment (deferasirox) in a 12 months extension phase. During the core and extension, the effects of treatment on iron overload in the liver will be evaluated using magnetic resonance imaging (MRI) assessments. CICL670A2209E1: A one-year open-label extension to a randomized, double-blind, placebo-controlled, phase II study to evaluate efficacy and safety of deferasirox in non-transfusion dependent thalassemia patients with iron overload (Thalassa).
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 and blood waste products: 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.
This is a study to collect the outcomes of stem cell transplantation for patients with hematologic diseases other than cancer.
Children, adolescents, and young adults with malignant and non-malignant conditionsundergoing an allogeneic stem cell transplantation (AlloSCT) will have the stem cells selected utilizing α/β CD3+/CD19+ cell depletion. All other treatment is standard of care.
To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and preventative methods for specific and complex conditions.
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft failure and to aid in immune reconstitution following hematopoietic stem cell transplantation.
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). After transplant, subjects will be followed for late effects and for ongoing graft success.