Beta-Thalassemia

This NIH-sponsored study aims to characterize three biomarkers derived from 129Xe gas exchange MRI and understand how they change in response to interventions. The study focuses on markers derived from the interaction of 129Xe with pulmonary capillary red blood cells RBCs, specifically RBC transfer MRI, cardiogenic oscillations in 129Xe-RBC signal amplitude, and the 129Xe-RBC chemical shift. The study population includes healthy volunteers, patients scheduled to undergo transfusion or phlebotomy, patients with dyspnea, interstitial lung disease ILD, idiopathic pulmonary fibrosis IPF, non-specific interstitial pneumonias NSIP, chronic hypersensitivity pneumonitis cHP, sarcoid, chronic thromboembolic pulmonary hypertension CTEPH, and acute pulmonary embolism.

This research aims to evaluate the long-term safety and effectiveness of CS-101 in participants who previously received CS-101 in an earlier study CS-101-03. It focuses on individuals with beta-thalassemia who underwent treatment with this base-edited autologous hematopoietic stem cell transplantation. The study is led by the Childrens Hospital of Fudan University and monitors participants up to two years after their infusion. Participants in this follow-up study have completed the initial CS-101-03 trial where they received the CS-101 infusion. This current study tracks their health and treatment outcomes for up to two years after the last six-month follow-up visit post-infusion. The study does not introduce new treatments but observes the long-term effects of the prior CS-101 therapy. During the study, participants will undergo evaluations for serious adverse events, death, new cancers or blood disorders, and whether they achieve transfusion independence for at least 12 consecutive months. Researchers will also monitor changes in fetal and total hemoglobin levels, and the genetic modification presence in blood and bone marrow cells. All assessments occur from the time of consent through two years post-infusion, with safety and efficacy carefully observed throughout this period.

This research follows patients with Hemoglobinopathy and Sickle Cell Disease who previously received BEAM-101, a gene-edited cell treatment, in an earlier study. The trial is a long-term observational follow-up to monitor safety and health outcomes over an extended period. It aims to gather important information about the long-term effects and risks after receiving BEAM-101 treatment. Participants in this study have received a single dose of BEAM-101 by intravenous infusion after a conditioning treatment with busulfan. This follow-up study will track their health for 13 years, adding up to 15 years from the initial treatment. Study visits will happen annually for the first 5 years, then every 3 years until year 11, with a final visit at year 15. Additionally, virtual or phone check-ins will occur every 6 months for the first 5 years, then annually thereafter. During the study, participants will undergo regular safety and efficacy assessments to monitor their health, including how well they remain free of severe sickle cell crises and their blood hemoglobin levels. Researchers will review long-term safety data and mortality over the 13 years. The study includes blood tests and other evaluations at scheduled visits and check-ins. Participation will last up to 15 years, with ongoing monitoring to understand the lasting impact of BEAM-101 treatment.

Researchers are evaluating 9MW3011, a drug being studied in patients with non-transfusion-dependent beta-thalassemia, a condition affecting blood production. This phase Ib, randomized, double-blind, placebo-controlled study aims to assess the safety, tolerability, how the drug moves and acts in the body, and immune responses to 9MW3011. The study involves 40 patients divided into four dose groups to explore these effects carefully. Participants will receive either 9MW3011 or a placebo through intravenous infusion in a 41 ratio within each dose group. The study has multiple ascending dose cohorts to test increasing doses of 9MW3011. This design helps researchers understand the drugs impact at different dose levels and compare it to a placebo under blinded conditions. During the study, participants will be monitored up to day 169 for adverse events, vital signs, physical exams, ECG results, and lab tests to evaluate safety. Researchers will measure drug levels in the blood, effects on iron metabolism markers, immune responses, and liver iron concentration. Participants will be involved in scheduled visits for assessments, tests, and safety monitoring throughout the study duration.

Researchers are evaluating a new combination of evidence-based interventions EBIs aimed at improving diagnostic safety and efficiency in primary care for patients with anemia and decreased glomerular filtration rate. The study is designed as a stepped wedge cluster randomized control trial to measure how these interventions affect patient safety and healthcare efficiency, while also assessing factors influencing their implementation such as acceptability, cost, and sustainability. The study compares an enhanced diagnostic team approach to usual care. The enhanced approach includes automated detection and tracking of abnormal test results, expanding the primary care team to include clinical pharmacists to guide anemia evaluation, and engaging patients through nurse navigators to increase their activation in the diagnostic process. The study involves several clinic groups that receive the intervention at different times, ranging from 12 to 24 months, with some initial control periods. Participants will have their diagnostic accuracy for causes of low hemoglobin and decreased glomerular filtration rate assessed within six months. Researchers will track time to diagnosis, appropriate test usage, treatment costs, and primary care physicians views on the interventions acceptability and feasibility. The study also monitors how well the diagnostic process steps are followed, the interventions reach among patients, and sustainability in clinics over 2.5 years. Patient activation and clinic-level facilitators and barriers are evaluated through surveys and measures during the study period.

Researchers are evaluating the safety, tolerability, and effectiveness of a gene therapy treatment called BD211 for patients aged 3 to 35 years with transfusion-dependent beta-thalassemia. This condition requires regular blood transfusions, and the study aims to assess how well the gene-modified stem cells work and how safely they can be used. The study is a Phase 1, open-label trial sponsored by Shanghai BDgene Co., Ltd., focusing on patients who need frequent transfusions and have limited treatment options. The treatment involves a single intravenous infusion of BD211, which consists of autologous CD34 hematopoietic stem cells that have been genetically modified with a lentiviral vector to produce healthy beta-globin. Participants receive one dose of at least 5 million cells per kilogram of body weight. The study includes an 18-month follow-up period to monitor safety endpoints and effectiveness, including the ability to reduce or eliminate the need for transfusions. During the study, participants undergo regular assessments to track neutrophil and platelet engraftment, transfusion independence, blood hemoglobin levels, ferritin levels, and the presence of the beta-globin protein in blood. Researchers also monitor for adverse events, survival rates, hospitalizations, and any signs of complications related to the gene therapy. Participants are expected to comply with scheduled visits, laboratory tests, and long-term follow-up assessments to help determine the treatments overall safety and efficacy.

Researchers are studying SNH-119014, an oral small-molecule drug that targets the pyruvate kinase red blood cell isozyme PKR, to understand its safety, tolerability, and how the body absorbs and responds to it. This phase 1 trial involves healthy adult volunteers to gather initial information about the drugs effects and how food influences its absorption. The study involves giving participants either single ascending doses or multiple ascending doses of SNH-119014 or a placebo in a randomized, controlled manner. The treatment is administered orally, and the study uses a quadruple-masked design to compare effects without bias. Participants will undergo regular monitoring including physical examinations, vital signs checks, ECGs, and laboratory tests to detect any abnormal findings or adverse events related to the study drug. The primary outcome focuses on safety measures up to 7 or 20 days after dosing. The total participation duration and follow-up are designed to ensure thorough assessment of drug effects and safety in healthy adults aged 18 to 45 years.

This observational study aims to assess the real-world safety of luspatercept in Korean adults diagnosed with myelodysplastic syndrome MDS or beta thalassemia. The research focuses on participants who will start treatment with luspatercept to better understand its safety profile in routine clinical use. Participants will receive luspatercept according to the approved label in the Republic of Korea. The study involves enrolling adults aged 19 years or older who are prescribed luspatercept for approved indications. No experimental treatments or placebos are involved, as this study observes standard clinical practice. During the study, researchers will monitor participants for adverse events up to six months after starting luspatercept. They will collect safety data while participants continue their prescribed treatment. This study helps provide important safety information while participants receive regular medical care under supervision.

Researchers are evaluating luspatercept treatment in adults with transfusion-dependent beta-thalassemia in the Middle East. This observational study aims to understand real-world use and outcomes of luspatercept, a drug given according to its product label, in people aged 18 and older who require regular blood transfusions due to beta-thalassemia. Participants in this study have started luspatercept treatment within the past 12 months and continue therapy as prescribed in routine care. The study collects data retrospectively and prospectively, observing changes in transfusion needs, pre-transfusion hemoglobin levels, and iron levels up to 144 weeks. Researchers also monitor transfusion-related visits, treatment duration, dose modifications, medical encounters, and reasons for treatment changes. During the study, participants medical records are reviewed to assess transfusion burden, hemoglobin levels, iron chelation therapy, hospital visits, and other health outcomes. The study tracks long-term treatment patterns and safety events while collecting demographic and disease information. Participation involves ongoing treatment with luspatercept and regular data collection through week 144 to understand treatment effects and patient experience over time.

Researchers are evaluating the long-term safety and effects of etavopivat, a new oral medicine being developed for inherited blood disorders such as sickle cell disease and thalassaemia. These conditions affect haemoglobin, the protein responsible for carrying oxygen in the blood. This phase 3 study involves participants who have already completed treatment in a prior etavopivat study and aims to understand how etavopivat performs over an extended period of up to 264 weeks, though the study may end earlier if the drug gains approval locally. Participants will receive oral doses of etavopivat, with different forms A, B, or C given based on their age and condition. Those aged 12 years and older will receive etavopivat A or C, while children under 12 years will receive etavopivat B. The study includes several groups covering various sickle cell disease and thalassaemia categories, including transfusion-dependent and non-transfusion-dependent cases. Treatment is continuous during the study period. Throughout the study, participants will undergo regular monitoring for side effects and treatment responses, including tracking treatment emergent adverse events, hospitalizations, vaso-occlusive crises, hemoglobin concentration changes, and blood transfusion needs. These assessments will help evaluate the drugs safety and efficacy across age groups and disease types. The study is open-label and non-randomized, with follow-up lasting up to about six years.