Acquired Aplastic Anemia

Researchers are studying biomarkers from 129Xe gas exchange MRI to understand how they change with different medical interventions. The study focuses on interactions between 129Xe and red blood cells in the lungs. Participants include healthy volunteers and patients with conditions like interstitial lung disease, pulmonary hypertension, acute or chronic pulmonary embolism, anemia, polycythemia, and dyspnea. The study uses hyperpolarized xenon gas inhaled in multiple doses followed by breath holds, alongside oxygen administration. Participants are grouped by treatment: those undergoing transfusion or phlebotomy, patients receiving oxygen for lung-related conditions or healthy volunteers, and those recently diagnosed with acute or chronic pulmonary embolism. Treatments and responses are monitored at baseline and various follow-up points. Participants will undergo MRI scans to measure red blood cell transfer, chemical shifts after oxygen delivery, and changes in red blood cell signal oscillations before and after treatment. The study includes visits up to 3–6 months after interventions to track changes. Researchers also monitor safety and participant adherence throughout the study, which lasts until mid-2028.

Thalassemia is a common inherited blood disorder, particularly prevalent in Yunnan, China, where many patients face high treatment costs. Current treatments include blood transfusions and hematopoietic stem cell transplantation (HSCT), which can cure thalassemia but involve significant risks and complications such as organ damage and graft-versus-host disease (GVHD). This research explores a new approach called hypertransplantation, developed by Professor Ai Huisheng's team, aiming to provide a safer, more effective, and affordable treatment without the need for pre-treatment or causing GVHD. The study will test hypertransplantation, which uses hematopoietic stem cells from haplotype-compatible healthy donors without requiring pre-treatment such as chemotherapy or radiation. This innovative method relies on immune interactions between donor and recipient to achieve stable donor cell implantation. Animal studies showed promising results with no GVHD or reproductive damage, and this clinical trial plans to enroll 3 to 5 patients aged 7 to 12 years with severe Mediterranean thalassemia who are ineligible or refuse standard HSCT or gene therapy. Participants will receive the hypertransplantation treatment and be closely monitored for donor cell implantation, blood counts, hemoglobin levels, immune function, and potential complications like infections or GVHD. The primary outcome will be the donor cell implantation rate three months after transplantation, with secondary outcomes including gene carrier status after one year. The study involves a single center and a single treatment group, with follow-up assessments to evaluate safety, efficacy, and recovery of endocrine and gastrointestinal functions over time.

Researchers are conducting the GENESIS clinical study to map the HLA genomic region in the Greek population and explore its possible links with various underlying diseases. This non-interventional, multicenter study aims to provide a pilot map of genetic variation in HLA that may be useful in medical research and clinical applications related to selected diseases. The study plans to include 12,000 participants over a total duration of 36 months. Each participant will attend one visit at a participating site during which they will provide demographic data, lifestyle information such as smoking and alcohol use, blood pressure measurements, details on diagnosed diseases and treatments, and recent laboratory test results if available. Buccal swab samples will be collected from each participant to extract DNA for HLA genotyping analysis. Selected samples will undergo further whole genome sequencing to investigate associations with autoimmune diseases. Participants will receive a personalized ancestry report after analysis completion. During the study visit, data collection includes demographic and health information, as well as laboratory and clinical test results from the past year. The genetic material from buccal swabs will be stored and processed for genetic analysis. Researchers will measure allele frequency of HLA alleles in the Greek population and assess the prevalence and risk associations of selected HLA-related diseases. The study's total duration is 36 months with results available at the end of this period.

Researchers are studying the use of unlicensed cryopreserved cord blood units (CBUs) for transplantation in both pediatric and adult patients with various blood-related cancers and other disorders affecting the blood-forming system. This observational study aims to evaluate outcomes such as the recovery of a certain level of white blood cells after transplantation, as well as the incidence of infections, infusion reactions, survival rates, and graft-versus-host disease over time. The study involves patients receiving unlicensed CBUs at multiple U.S. transplant centers. These CBUs are used for patients with hematologic malignancies and other blood disorders. The protocol collects data on patients who receive these unlicensed transplant units, without administering a new treatment but observing the outcomes after transplantation. Participants will be monitored for neutrophil recovery at 60 and 100 days post-transplant, along with assessments of infection transmission, infusion reactions, survival one year after transplant, and occurrences of acute and chronic graft-versus-host disease. Platelet engraftment levels will also be tracked. The study includes patients of any age and follows them through the transplantation and recovery process to gather information on these key outcomes.

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 intervention's acceptability and feasibility. The study also monitors how well the diagnostic process steps are followed, the intervention's 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 IM-1021, an antibody-drug conjugate, in participants with advanced cancers including B-cell lymphomas and solid tumors. This Phase 1 open-label study aims to assess the safety, tolerability, pharmacokinetics, and early anti-tumor effects of IM-1021. The study includes a dose escalation phase to find safe doses and schedules, followed by an expansion phase to further assess these doses in specific cancer types. IM-1021 is given intravenously on a 21-day cycle, starting at 2 mg/kg, with alternative dosing schedules possible. The study has two parts: Part A focuses on escalating doses to evaluate safety and determine recommended doses, while Part B expands treatment in groups with specific cancer types to further evaluate safety and preliminary activity. Participants will undergo regular safety assessments including monitoring for treatment-related side effects from the first dose through 37 days after the last dose. Researchers will also measure drug levels in the body and evaluate anti-tumor activity starting at week 6 until disease progression or study discontinuation. The total study duration varies per participant. Safety, tolerability, and pharmacokinetic data will guide future development of IM-1021.

Researchers are investigating the use of allogeneic hematopoietic stem cell transplantation (HSCT) to treat VEXAS Syndrome, a newly identified disease characterized by inflammatory and blood-related problems. This syndrome involves symptoms such as fever, skin lesions, and bone marrow failure, often resistant to standard treatments. The study aims to determine if HSCT can successfully replace the patient's bone marrow with donor cells and improve or reverse the disease's clinical features over time. Participants will receive a stem cell transplant from a matched or haploidentical donor after undergoing a reduced intensity conditioning regimen tailored to the donor match type. This includes drugs like fludarabine, busulfan, cyclophosphamide, and possibly low-dose total body irradiation. After the transplant, participants will receive medications such as mycophenolate mofetil and tacrolimus to prevent graft-versus-host disease. The transplant is given via a central venous catheter, and participants must stay near the hospital for at least 100 days with frequent follow-up visits. During the study, participants will undergo extensive screening including physical exams, imaging scans, blood and urine tests, bone marrow biopsies, and specialist consultations. Post-transplant, they will attend scheduled visits up to two years after receiving the transplant to monitor donor cell engraftment, disease reversal, safety outcomes, and any complications like graft-versus-host disease. The study includes yearly follow-ups by phone after two years, with total participation possibly extending beyond three years.

Pregnant women with aplastic anemia (AA), a rare blood disorder causing bone marrow failure and low blood counts, face serious risks including heavy bleeding, infections, and complications for their babies like preterm birth and restricted growth. This research aims to develop and validate a tool to predict adverse pregnancy outcomes in women with AA, helping guide early clinical decisions and improve health for mothers and infants. The study combines retrospective and prospective data collection across multiple centers to address the current lack of comprehensive data in this area. The study involves observing pregnant women diagnosed with AA either before or during their pregnancy. Researchers will gather baseline information and diagnostic data, then follow participants regularly through questionnaires, phone calls, video consultations, online platforms, and in-person visits. They will record treatments, other health conditions, and pregnancy outcomes, aiming to build a prediction model for adverse outcomes. Participants will be monitored from their first hospital visit during pregnancy until 42 days after delivery. Data collected includes clinical assessments and neonatal Apgar scores shortly after birth. The study will provide detailed information on the health and risks for mothers and babies affected by AA during pregnancy, helping improve care strategies. The total participation duration varies depending on the timing of enrollment and delivery.

Researchers are evaluating a reduced-intensity treatment regimen including cyclophosphamide, pentostatin, and anti-thymocyte globulin before a CD4+ T-cell depleted haploidentical hematopoietic cell transplant (haploHCT) for patients with severe aplastic anemia that is refractory or recurrent. This phase I trial aims to assess the safety and feasibility of this approach, including the ability to prepare the required cell product and reduce risks such as graft versus host disease. Participants receive cyclophosphamide both orally and intravenously, pentostatin intravenously, and anti-thymocyte globulin intravenously before undergoing the CD4+ T-cell depleted haploHCT. The study includes procedures like bone marrow aspirate and biopsy, along with blood sample collection at screening and follow-up. The regimen is designed to prepare the patient's body for the transplant by making room for healthy cells and modulating the immune response. During the study, participants will be monitored for adverse events, blood cell recovery, infections, graft versus host disease, survival rates, and donor cell engraftment over periods extending up to three years. Assessments include lab tests, bone marrow evaluations, and questionnaires. Researchers will also study immune cell profiles and bone marrow environment changes for up to two years after transplant to better understand treatment effects and long-term outcomes.

Researchers are evaluating the safety, tolerability, pharmacokinetics, and preliminary effectiveness of BL-M24D1 in patients with relapsed or refractory multiple myeloma and other blood cancers. This open, multicenter, non-randomized Phase I clinical trial aims to gather early data on how this investigational drug behaves and affects patients who have limited treatment options after standard therapies have failed or are unavailable. The study has two parts: a dose escalation phase (Phase Ia) and an expansion cohort phase (Phase Ib). Participants receive BL-M24D1 through intravenous infusion over a 2-week cycle. If clinical benefit is observed, patients may continue receiving additional cycles until disease progression, intolerable side effects, or other reasons lead to stopping treatment. During the trial, participants undergo regular assessments including monitoring for dose-limiting toxicities within 28 days after the first dose and evaluation of the maximum tolerated dose. Over approximately 24 months, researchers will track treatment-emergent side effects, pharmacokinetic measures like drug concentration and clearance, immune responses to the drug, and clinical responses such as objective response rate and duration of response. The study includes safety follow-up and long-term monitoring.