Iron Overload Disorder

Researchers are evaluating the safety and effectiveness of a gene therapy called LentiRed using autologous CD34+ human hematopoietic stem cells for people with transfusion-dependent beta-thalassemia (TDT). This open-label, single-dose study focuses on patients aged 5 to 35 years who have severe anemia requiring regular blood transfusions and standard iron removal therapy. The study is early phase 1 and sponsored by the First Affiliated Hospital of Guangxi Medical University. Participants receive the LentiRed drug product through an intravenous infusion after undergoing myeloablative conditioning with busulfan. The study involves only one treatment group receiving this gene therapy. The treatment aims to reduce or eliminate the need for red blood cell transfusions by modifying the patients' own stem cells. Participants will be followed for 5 years with regular monitoring to assess transfusion independence, hemoglobin levels, therapeutic globin expression, and any side effects or adverse events. Blood and bone marrow samples will be collected to measure the presence and activity of the modified cells. Researchers will also evaluate survival rates and other safety outcomes. The primary outcomes focus on transfusion independence and reduction in transfusion needs over 24 months post-infusion.

Researchers are investigating whether the amount of iron in tears is connected to the severity of dry eye disease. This observational study compares tear samples from people with dry eye to those from individuals with healthy eyes. The goal is to find new ways to diagnose and understand dry eye by analyzing tear iron levels alongside standard dry eye test results and symptom scores. Participants will have a single study visit involving tear fluid collection using sterile Schirmer test strips without anesthesia, placed in the lower conjunctival sac for 5 minutes. They will also undergo a detailed eye surface evaluation, including the Ocular Surface Disease Index questionnaire and clinical tests such as fluorescein tear film breakup time, corneal fluorescein staining scoring, and Schirmer I test. The tear samples will be analyzed for iron concentration. During the study visit, researchers will assess symptoms and conduct clinical tests to measure tear film stability, tear secretion volume, and corneal epithelial damage. The main measure is the correlation between tear iron levels and dry eye symptom severity. This single diagnostic visit includes no treatment, and participants' usual eye care remains unchanged. The study is expected to continue until May 2029.

Researchers are studying patients undergoing transcatheter aortic valve implantation (TAVI), an emerging procedure used in high-risk cardiac surgery and cardiology patients who are often considered inoperable by conventional means. This observational study aims to understand the specific anesthesiologic challenges faced by cardiac anesthesiologists during these procedures. The study is sponsored by Deutsches Herzzentrum Muenchen and focuses on improving perioperative care in this high-risk group. This study involves monitoring patients who receive TAVI, without any experimental treatments or interventions. The study observes the anesthesia process and perioperative care during the procedure. There are no comparison groups or drug treatments involved. Participants will be observed during the perioperative period, specifically for one day around the time of the procedure. Researchers will collect data on anesthesiology care and related cardiac events during the operation. Additionally, participants may be followed for up to 10 years to assess longer-term outcomes. The study does not involve any additional treatments and focuses on collecting observational data to better understand anesthesia management in TAVI.

This clinical trial is studying patients with malignant or non-malignant diseases who need a hematopoietic stem cell transplant (HSCT) but do not have a fully matched sibling donor. The researchers aim to evaluate the use of CD62L depleted donor lymphocyte infusion combined with T cell receptor alpha-beta depleted haploidentical HSCT. The goal is to assess survival without graft failure or graft-versus-host disease (GVHD) at one year, as well as monitor adverse events, complications, and immune recovery. The treatment involves collecting peripheral stem cells from a related haploidentical donor, dividing the product into two parts: one undergoing T cell receptor alpha-beta depletion and the other CD62L depletion. Both depleted products are then infused intravenously into the patient on the same day. This approach is being studied in a phase 2 trial to evaluate its potential benefits and risks. Participants will be followed for up to one year after transplantation. Researchers will monitor graft failure-free and GVHD-free survival, overall survival, relapse rates, infections, acute and chronic GVHD, and other adverse events during this period. They will also assess blood T lymphocyte counts at 3 months and 1 year to evaluate immune system recovery. The trial includes patients up to 18 years old and involves careful safety and outcome monitoring throughout the study.

Researchers are creating a network of hospitals, labs, academic institutions, and healthcare organizations to provide annotated biospecimens for various types of medical research and education. These biospecimens will be used for biomarker discovery, diagnostic test development, therapeutics research, and training of researchers and physicians. Participants may be healthy or have medical conditions relevant to ongoing research needs. The study involves collecting remnant specimens originally obtained for clinical testing or specimens collected specifically for research, including biofluids, tissues, and cells. Participants may be identified during clinical care or recruited through outreach programs. Biospecimens may be distributed to various research entities such as academic institutions and companies for diverse research uses, including genetic testing, cell line development, and long-term storage. Participants may undergo minimal risk screening activities and provide biospecimens as needed. The research team will collect data over a 10-year period to support novel research uses. Biospecimens may be used for multiple research and educational purposes, including training laboratory technicians and physicians. The study includes participants aged 1 to 89 years and involves assessment of health status through medical record reviews and clinical exams when blood collection is needed.

Researchers are investigating how living at different altitudes affects iron absorption and losses in the body. The study focuses on people living below 1000 meters and above 1500 meters in Switzerland to better understand if daily iron intake recommendations and diagnostic thresholds for iron deficiency anemia should be adjusted for high-altitude populations. The study enrolls healthy adults aged 18 to 45 to fill knowledge gaps regarding iron balance influenced by oxygen availability at altitude. Participants will receive a single oral dose of stable iron isotopes (15 mg of ferrous sulphate 57FeSO4) combined with vitamin C and syrup to improve absorption and taste. The two groups differ only by their residence altitude, with no other interventions applied. The study includes a long-term observation period where iron turnover is tracked through isotope measurements in blood samples taken at four visits over the second year following isotope administration. During the four visits at months 12, 16, 20, and 24, blood samples will be collected to measure isotope concentration and several iron-related biomarkers including hemoglobin mass, ferritin, hepcidin, transferrin receptor, CRP, AGP, erythropoietin, and erythroferrone. Hemoglobin mass will be measured twice using a carbon monoxide rebreathing method. Participants will also complete questionnaires on diet and physical activity. This comprehensive monitoring aims to determine iron absorption, losses, and the impact of altitude on iron balance over time.

Researchers are maintaining a detailed registry of patients diagnosed with Diamond Blackfan anemia (DBA), a rare inherited bone marrow failure syndrome. DBA is a genetic disorder causing anemia early in childhood, often accompanied by congenital anomalies and a risk for blood-related cancers. The study aims to enhance understanding of DBA's epidemiology, biology, and genetic traits to improve diagnosis and treatment. This observational study is a continuation of an established registry started in 1992, supported by the Northwell Health institution. The registry collects comprehensive data from patients who meet specific diagnostic criteria for DBA, including anemia characteristics, bone marrow analysis, blood counts, and genetic mutations. This resource provides access to well-characterized patients for research studies and treatment protocols. The registry also offers patients and their doctors important information to support diagnostic, therapeutic, and reproductive decisions. Participants contribute data over time, helping researchers track the epidemiology and biology of DBA annually. The study involves gathering clinical information, genetic testing results, and patient outcomes to facilitate genotype-phenotype correlations. By maintaining updated patient records, the registry supports ongoing research and patient care, with no fixed end date as the study continues to collect valuable data for understanding DBA.

Researchers are studying iron requirements in a representative group of adult men and premenopausal women living in the United States. This research aims to improve dietary iron guidelines by using the iron isotope dilution technique to better reflect the needs of the US population. The study involves adults aged 18 to 50 who have either participated in a previous isotope study or are willing to take part in a new one. Participants will receive a stable iron isotope and then be monitored over a 12-week period. Blood samples will be collected every 4 weeks to measure the iron isotope composition. This helps researchers understand how the body absorbs and uses iron. During the study, participants will undergo blood collection and provide consent for storing blood samples for future research. Researchers will track the iron isotope levels in the blood as the main outcome. Participants must follow study rules such as avoiding iron supplements, tobacco smoking, and blood donation during the study. The entire process takes about 12 weeks, with regular blood tests and monitoring.

Researchers are developing the European Rare Blood Disorders Platform (ENROL) to unify and improve data collection on Rare Hematological Diseases (RHDs) across Europe. This platform aims to reduce fragmentation by connecting new and existing patient registries, promoting data sharing standards, and protecting patient confidentiality. ENROL focuses on mapping demographics, diagnosis methods, genetic data, clinical features, and treatments to support research and healthcare planning for over 450 different rare blood disorders, including inherited and acquired conditions such as anemia, bone marrow failures, bleeding disorders, and blood cancers. The platform integrates retrospective and prospective patient data from healthcare providers and existing national or local registries. Data are collected at the time of inclusion and updated annually to monitor disease trends and support research. ENROL supports varying levels of data detail, from aggregated counts for epidemiological surveillance to pseudonymized individual patient data for research and clinical trial identification. Patients are grouped by specific rare blood disorder categories such as inherited anemia, acquired bone marrow failure, bleeding disorders, iron metabolism disorders, myeloid malignancies, and lymphoid malignancies. Participants include males and females aged 0 to 100 years diagnosed with RHDs per ORPHANET classification. Data collection includes clinical and laboratory information from electronic health records and other registries. The study monitors demographic and epidemiological outcomes over 15 years, with ongoing data pooling and analysis to improve understanding and care of rare blood disorders. Participation involves providing informed consent and allowing data sharing under strict privacy and data protection regulations, with no expected end date for the platform’s operation and data collection.

Researchers are evaluating the use of recombinant humanized anti-CD25 monoclonal antibody to prevent graft-versus-host disease (GVHD) in patients with transfusion-dependent thalassemia undergoing haploidentical or matched unrelated donor hematopoietic stem cell transplantation. GVHD is a major complication that affects the success and quality of life after transplantation. This Phase 2 trial aims to determine whether this antibody reduces GVHD incidence and to assess its safety and impact on quality of life over a two-year follow-up. Participants will be randomly assigned in a 2:1 ratio to either receive the recombinant humanized anti-CD25 monoclonal antibody combined with standard GVHD prevention or standard prevention alone. The antibody is given in four doses at 1 mg/kg on days +7, +14, +28, and +42 after transplantation. The control group will not receive the antibody but will follow the usual GVHD prophylaxis. The study compares outcomes between these two groups. During the study, participants will be monitored for acute GVHD within 100 days and chronic GVHD, overall survival, thalassemia-free survival, transplant-related mortality, complications, infections, immune recovery, quality of life, and adverse events over two years. Regular assessments and follow-ups will evaluate the clinical efficacy and safety of the antibody treatment. The total participation time covers at least two years of follow-up after transplantation.