Inherited hemoglobinopathy

This study follows patients who have already been taking ruxolitinib alone or with panobinostat in earlier trials and are still benefiting. Researchers will track side effects over time to see how safe these drugs are for long-term use. About 296 participants with conditions like…

This Phase 2 trial tests an experimental drug called REGN7999 in about 95 people with non-transfusion dependent beta-thalassemia who have too much iron in their bodies. The drug is given as a shot under the skin and aims to safely reduce iron levels in the liver. Researchers will…

This phase 3 trial tests a single dose of CTX001, a CRISPR-edited stem cell therapy, in 13 children with severe sickle cell disease who have not responded to standard treatments. The goal is to see if it can prevent severe pain crises for at least a year. Participants receive the…

This phase 3 trial tests a single dose of CTX001, a CRISPR gene therapy made from the child's own blood stem cells, for children with transfusion-dependent beta-thalassemia. The goal is to help them become transfusion-free for at least 12 months. Sixteen children will receive the…

This study tests whether hydroxyurea, a drug already used for sickle cell disease in other parts of the world, is safe and effective for children with sickle cell anemia in Africa. Children aged 1 to 10 years receive daily doses of hydroxyurea, with careful monitoring for side ef…

This phase 3 trial tests the drug mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic disorder that causes red blood cells to break down too quickly. These children need regular blood transfusions. The study compares mitapivat to a placebo to see if…

This study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …

This phase 3 study tests whether mitapivat, an oral medication, can safely reduce the number of blood transfusions needed by adults with transfusion-dependent alpha- or beta-thalassemia. Participants receive either mitapivat or a placebo for 48 weeks. The main goal is to see if m…

This phase 3 trial tests whether the drug mitapivat can improve anemia and reduce fatigue in people with alpha- or beta-thalassemia who do not need regular blood transfusions. About 194 participants received either mitapivat or a placebo daily for 24 weeks. The main goal is to se…

This study tests a drug called mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The trial compares mitapivat to a placebo to see if it can raise hemoglobin levels…

This study tests a drug called mitapivat in 286 people with sickle cell disease, ages 16 and older. The goal is to see if mitapivat can raise hemoglobin levels and reduce painful sickle cell crises compared to a placebo. The trial has two phases: first to find the best dose, then…

This early-stage study tests a gene therapy for people with severe beta-thalassemia who need regular blood transfusions. The treatment modifies the patient's own blood stem cells to produce healthy hemoglobin, aiming to reduce or eliminate the need for transfusions. Six participa…

This study looks at whether a progestin contraceptive implant (Nexplanon) can reduce painful sickle cell crises and improve quality of life in women aged 18-45 with sickle cell disease. Twenty-two participants will use the implant for a period and report their pain episodes. The …

This study offers expanded access to a gene therapy for people with severe sickle cell disease. The treatment uses a modified virus to deliver genetic material that increases fetal hemoglobin, a healthy type that prevents sickling. Patients receive their own blood stem cells back…

This early-phase trial is testing a new gene therapy called CS-101 for people with beta-thalassemia, a blood disorder that often requires lifelong transfusions. The treatment uses the patient's own stem cells, which are modified in a lab to produce fetal hemoglobin, potentially r…

This phase 3 study tests two doses of crizanlizumab against a placebo in 255 adolescents and adults with sickle cell disease who have frequent pain crises. The goal is to see if the drug can reduce the number of severe pain episodes that require a hospital or clinic visit. Partic…

This Phase 3 trial tests whether automated red cell exchange (a procedure that replaces a patient's sickled red blood cells with healthy donor cells) plus standard care can reduce hospital visits and deaths in adults with sickle cell disease at high risk. About 173 participants w…

This Phase 2 trial tests whether tebapivat, an oral tablet, can improve anemia in people with sickle cell disease compared to a placebo. About 59 participants will take the drug or a dummy pill for several weeks. The main goal is to see if hemoglobin levels rise, which could mean…

This study tests a gene therapy that modifies a patient's own blood stem cells to produce more fetal hemoglobin, a healthy type that prevents sickling. The goal is to reduce or eliminate severe pain crises in people with sickle cell disease. The treatment involves chemotherapy to…

This study looks at the long-term safety and tolerability of the drug mitapivat in adults with stable sickle cell disease. Participants, who previously benefited from mitapivat in an earlier study, take the drug twice daily for up to 48 weeks, with an option to continue for anoth…

This study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…

This early-phase trial tests a new combination of drugs (briquilimab, abatacept, and alemtuzumab) plus low-dose radiation to prepare people with sickle cell disease for a stem cell transplant from a half-matched family donor. The goal is to reduce serious side effects like graft-…

This early-stage study tests a gene therapy for adults with β-thalassemia major, a severe blood disorder requiring frequent transfusions. Doctors take the patient's own stem cells, fix the faulty gene, and return the corrected cells via an IV. A low dose of busulfan prepares the …

This trial tests the drug hydroxyurea in 811 children with sickle cell anemia across Africa. The goal is to see if it is safe and effective, and to make it more available. Children take daily doses adjusted for their weight, and doctors monitor blood counts and fetal hemoglobin l…

This study tests a stem cell transplant using cells from a half-matched family donor, combined with low-dose radiation and drugs to prevent rejection, for adults with severe sickle cell disease or beta-thalassemia. The goal is to see if this gentler approach can replace the disea…

This study tests a stem cell transplant from a half-matched relative (haploidentical donor) for adults with severe sickle cell disease. The goal is to see if a gentler conditioning regimen can reduce complications like graft rejection and graft-versus-host disease. Participants r…

This study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. Ten participants will receive their own blood stem cells modified with a healthy gene to help produce normal red blood cells. The goal is to raise hemoglobin l…

This phase 2 trial tests whether the drug itacitinib, given with standard care, can prevent graft-versus-host disease (GVHD) in people who receive a donor stem cell transplant for blood cancers. GVHD happens when the donor cells attack the patient's body. The study includes 31 ad…

This study looks at the long-term safety of the drug pociredir in 50 adults with sickle cell disease who have already taken it and seen benefits in an earlier study. Participants will take pociredir once daily for up to 48 months. The main goal is to track side effects and other …

This study tests a special care program for pregnant women with sickle cell disease in Ghana. A team of obstetric and sickle cell experts works together to prevent complications and reduce deaths. Researchers will track 500 women to see if this low-cost approach improves survival…

This study tests whether giving children with sickle cell anemia a personalized dose of hydroxyurea can lower their need for blood transfusions. About 100 children in Uganda will receive a dose based on their own drug levels. Researchers will compare transfusion rates before and …

This large Phase 3 trial is testing an oral drug called etavopivat in 450 people with sickle cell disease. The goal is to see if taking a pill once daily can raise hemoglobin levels and reduce the number of painful vaso-occlusive crises compared to a placebo. Participants must ha…

This study aimed to see if the drug mitapivat could help people with sickle cell disease who also have kidney damage. It planned to measure changes in a key kidney marker over six months. However, the trial was withdrawn before enrolling any participants, so no results are availa…

This study tested a drug called AG-348 in 20 adults with a type of thalassemia that doesn't require regular blood transfusions. The goal was to see if the drug could safely raise hemoglobin levels, which carry oxygen in the blood. Participants took the pill twice a day for up to …

This study was designed to test a single dose of exa-cel, a gene-edited cell therapy, in people with severe sickle cell disease who have the HbSC genotype. Participants would have received their own modified stem cells after chemotherapy. However, the trial was withdrawn before a…

This study follows 160 children and adults with beta-thalassemia or sickle cell disease who received a one-time treatment of their own CRISPR-edited stem cells (CTX001). The goal is to monitor long-term safety, including any new cancers or blood disorders, and to see how well the…

This study tests a special treatment for red blood cells that aims to kill the Zika virus, making transfusions safer. About 692 people who need blood transfusions will receive either treated or standard blood. The goal is to see if the treated blood works just as well and is safe…

This study tests whether adding an antibody called briquilimab (JSP191) to a standard stem cell transplant can help more donor cells take root in people with sickle cell disease or beta-thalassemia. About 40 patients aged 13 and older will receive the antibody along with low-dose…

This early-phase study tests a new type of stem cell transplant for people with severe sickle cell disease who don't have a fully matched sibling donor. It uses a half-matched family donor and a milder chemotherapy regimen to prepare the body, along with removing certain immune c…

This study tests whether adding the drug abatacept to standard care can prevent graft-versus-host disease (GVHD) in children receiving stem cell transplants from unrelated donors. GVHD occurs when donor cells attack the patient's body, causing serious illness. The trial will enro…

This study follows 5 people with beta-thalassemia who already received an experimental gene-edited cell therapy called CS-101. Researchers will monitor them for years to see if the treatment remains safe and whether they can stay free from blood transfusions for at least 12 month…

This study follows 8 people with β-thalassemia who already received a one-time treatment called CS-101, which modifies their own blood cells to produce fetal hemoglobin. No new drug is given. Researchers will monitor them for years to see if they stay free of blood transfusions a…

This study looks at whether voxelotor, a drug that helps red blood cells stay healthy, can improve physical function in people with sickle cell disease. Six adults aged 18-65 will take the drug for 6 months and have their walking ability tested. The goal is to see if the drug hel…

This early-stage trial tests a one-time gene therapy called BRL-101 for people with transfusion-dependent beta-thalassemia, a severe blood disorder. The treatment uses the patient's own stem cells, edited with CRISPR to boost healthy hemoglobin production. The goal is to see if a…

This early-phase study tests a gene therapy approach for people with severe sickle cell disease. The treatment uses a modified virus to add a gene that boosts fetal hemoglobin, which can reduce sickling and symptoms. Ten participants will receive their own gene-corrected blood st…

This early-phase trial tests a new way to prepare people with sickle cell disease for a stem cell transplant. Instead of full-body radiation, doctors use targeted radiation to the bone marrow and lymph nodes, along with drugs to prevent rejection and graft-versus-host disease. Th…

This study looks at whether storing red blood cells in a low-oxygen environment (called hypoxic storage) can improve transfusion care for adults with transfusion-dependent beta-thalassemia. Participants already receiving these specially stored blood cells as part of their routine…

This early-stage trial is testing a new treatment called BEAM-101 for people with severe sickle cell disease. The therapy uses a patient's own blood stem cells, which are gene-edited in a lab to produce healthy red blood cells. After a short course of chemotherapy, the edited cel…

This study follows 8 people who received a one-time gene therapy (BIVV003 for sickle cell disease or ST-400 for beta-thalassemia) to see if it remains safe and effective over many years. Researchers will track serious side effects, survival, and blood markers like hemoglobin leve…

This study tests a stem cell transplant method that removes certain immune cells from the donor's blood to lower the chance of graft-versus-host disease (GvHD), a serious complication. It involves 3 patients with blood cancers or non-cancerous blood disorders who lack a perfectly…

This study tests a drug called luspatercept in people with anemia caused by myelodysplastic syndromes (MDS) or beta-thalassemia who need regular blood transfusions. The goal is to see if the drug is safe and can reduce the number of transfusions needed. About 85 participants in I…

This study follows 4 people with sickle cell disease who previously received a one-time treatment of their own gene-edited stem cells (OTQ923). Researchers are checking for delayed side effects, such as new cancers or blood disorders, and measuring how long fetal hemoglobin produ…

This early-phase trial is testing whether the drug plerixafor can safely and effectively collect enough stem cells from people with sickle cell disease for a future gene therapy. Only 5 participants are enrolled, and the main goal is to check for side effects. If it works, it cou…

This study tests a new approach to stem cell transplants for people with blood cancers like leukemia and lymphoma. Patients receive a combination of umbilical cord blood and stem cells from a family member, with the cord blood chosen based on specific genetic markers rather than …

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study is testing whether a moderate exercise program can improve strength, balance, and endurance in children with sickle cell disease. Twenty children ages 6 to 17 will take part in strengthening and endurance exercises. Researchers will measure changes in muscle strength, …

This pilot study tests whether a daily mindful music listening program is practical and acceptable for patients hospitalized after an allogeneic stem cell transplant. About 35 adults will listen to music for one hour each day using a web-based platform. The study measures how fea…

This study tests whether people with sickle cell disease can reduce their pain by doing acupressure on themselves at home using a simple tool called AcuWand. Three hundred adults will either perform real or sham acupressure every other day for five weeks. The goal is to see if th…

This study looks at whether a plant-based omega-3 supplement from flaxseed can reduce pain and improve quality of life in children with sickle cell disease. About 30 children aged 5-18 will take flaxseed and report their pain levels. The goal is to see if this natural option is m…

This study looks at whether adding art therapy to physical therapy can help children aged 5 to 18 recover emotionally and physically after a stem cell transplant. For two weeks, some children receive both art and physical therapy daily, while others get only physical therapy. Res…

This study looks at whether acceptance and commitment therapy (ACT) can improve sleep for adults with sickle cell disease. Participants will have weekly video chats with a coach for 8 weeks and wear a wrist device to track sleep. The goal is to see if this approach is practical a…

This study looks at whether acupuncture can help manage chronic pain in people with sickle cell disease. Researchers will use brain scans and other tests to understand how acupuncture affects pain signals. The study involves 60 participants aged 14 to 80 who have sickle cell dise…

This observational study will examine how the drug mitapivat changes red blood cells in 6 people with sickle cell disease. Researchers will measure oxygen binding and cell survival markers from blood samples and muscle oxygen tests. The goal is to understand the drug's effects, n…

This study collects blood and other samples from people with sickle cell disease and healthy volunteers to help researchers understand how inflammation affects blood vessels. Up to 2,000 adults aged 18 and older will take part. The samples will be used in lab tests to support fut…

This study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drug…

This study looks at whether a special electronic pill bottle (AdhereTech) can accurately track how often teens with sickle cell disease take their medication, hydroxyurea. About 36 teens aged 12 to 17 will use the bottle for two months. Researchers will compare the bottle's data …

This study follows 50 young men who had cancer or blood disorders as children and received treatments that can harm fertility. Some stored testicular tissue before treatment; others did not. Researchers will check their fertility through exams, ultrasounds, blood tests, and semen…

This study screens healthy volunteers aged 18-39 who self-report African ancestry for alpha globin deletions, which cause alpha thalassemia. Participants provide a one-time saliva sample by mail or in person. The goal is to learn how these genetic changes affect blood vessels, wh…

This study was designed to see how long specially treated red blood cells survive in adults with sickle cell disease who receive regular blood exchange therapy. It was withdrawn before any participants were enrolled, so no results are available. The goal was to better understand …

This study looks at how platelets and inflammation work together during painful crises in adults with sickle cell disease. Researchers will take blood samples from 25 patients hospitalized for a crisis to analyze these processes. The goal is to better understand the disease, not …

This study follows 102 adults with sickle cell disease to track how often silent and overt strokes occur. Participants undergo regular MRI scans and neurological exams over 3.5 years. The goal is to gather data that could lead to the first stroke prevention trials specifically fo…

This study was designed to test a holistic education program for stress management in people from colonized English-speaking countries. It aimed to help with conditions like stress, PTSD, anxiety, and fatigue using pastoral counseling and self-care activities. However, the study …

This study tests a web-based tool called CHOICES that provides tailored information about reproductive health options for people with sickle cell disease or trait. The study involves 506 adults aged 18-45 who plan to have a child within two years. The goal is to see if the tool i…

This study looks at how different types of fats in the blood (like cholesterol) are linked to complications in adults with sickle cell disease. Researchers will follow 116 participants from the French Caribbean islands to track their fat levels over time and during acute events l…

This study interviews and surveys 70 adolescents and adults with sickle cell disease to understand why they sometimes skip their daily medications. Researchers will also ask what kind of text-message reminders patients would find helpful. The goal is to design a better support sy…

This study looks at how common strokes and silent brain injuries are in young adults (ages 16-25) with sickle cell anemia, especially in Nigeria where the disease is widespread. Researchers will use brain scans and blood tests to check for damage and identify risk factors like hi…