[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"thalassemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:thalassemia":34},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,15,0,[8,49,78,101,127,155,177,205,232,253,279,289,318,355,390],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100054158","athn-transcends-a-natural-history-study-of-non-neoplastic-hematologic-disorders-100054158",false,"NCT04398628","ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders","ATHN Transcends: A Natural History Cohort Study of the Safety, Effectiveness, and Practice of Treatment in People With Non-Neoplastic Hematologic Disorders","Participants who meet the following inclusion criteria and none of the exclusion criteria are eligible for enrollment in one of the open disease-specific arms.\n\nInclusion Criteria:\n\n1. Any age\n2. Having a congenital or acquired blood disorder; or\n3. Having a bleeding phenotype as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score with an unknown diagnosis; or\n4. Connective tissue disorder with bleeding tendency as indicated by an age adjusted abnormal ISTH Bleeding Assessment Tool score.\n5. Eligible for a currently active disease-specific arm.\n6. Concurrent enrollment in the ATHNdataset or current ATHNdataset participant.\n\nExclusion Criteria:\n\n1\\. Does not qualify for inclusion in a currently activedisease-specific arm; participants may be eligible to enroll as future cohorts and arms are activated; 2. Unable to give informed consent or assent 3. Unwilling to perform study procedures\n\nCohort Participant Selection\n\nEach participant is to be enrolled in the cohort for which they qualify as defined below.\n\nHemophilia Cohort\n\nInclusion Criteria:\n\nParticipants who meet any of the following inclusion criteria are eligible for enrollment into this cohort:\n\n1. Factor VIII or factor IX activity \\\u003C50%, without another explanation for low clotting factor other than congenital hemophilia or being a known carrier for congenital hemophilia; OR\n2. Carrier for congenital hemophilia with a factor VIII \\>=50% or factor IX activity \\>=50% with or without a bleeding phenotype as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years OR\n3. Known congenital hemophilia that have a factor level \\>50% after receiving vector, OR 4. Acquired hemophilia.\n\nExclusion Criteria:\n\nNone\n\nVon Willebrand Disease Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Meeting the definition of VWD or low VWF per most recent international guidelines\n\nExclusion Criteria:\n\nNone\n\nCongenital Platelet Disorders Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1. Abnormalities of platelet function a. Glanzmann thrombasthenia (GPIIb or GPIIIa) b. Bernard-Soulier syndrome (GPIbalpha, GPIbbeta, or GPIX)\n2. Abnormalities of platelet granules\n3. Abnormalities of platelet signal transduction\n4. Abnormalities of platelet secretion\n5. Collagen Receptor Defect\n6. ADP Receptor Defect\n7. Thromboxane Receptor Defect\n8. Giant Platelet Disorder\n9. Abnormalities in platelet aggregation testing due to another or unknown cause (not drug related)\n\nExclusion Criteria:\n\n1\\. Platelet disorders secondary to medications or other substances\n\nRare Disorders Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Have an established Rare Coagulation Disorder (RCD) diagnosis of one of the following:\n\n1. PAI-1 deficiency\n2. Factor I, II, V, VII, X, XI, XIII deficiencies\n3. Combined FV and FVIII deficiency\n4. Plasminogen deficiency\n5. Decreased tissue plasminogen activator\n6. Afibrinogenemia\u002Fhypofibrinogenemia\u002Fdysfibrinogenemia\n7. Thrombotic Thrombocytopenia Purpura or Congenital Hemolytic Uremic Syndrome\n8. Wiskott-Aldrich\n9. Methylenetetrahydrofolate Reductase Deficiency\n\nExclusion Criteria:\n\nNone\n\nBleeding NOS Cohort\n\nInclusion Criteria:\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1. Have a bleeding phenotype as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years with an unknown diagnosis, OR\n2. Connective tissue disorder with bleeding tendency as indicated by an ISTH Bleeding Assessment Tool score of ≥4 for adult males, ≥6 for adult females, or ≥3 for children younger than 18 years.\n\nExclusion Criteria:\n\nNone\n\nThrombosis\u002FThrombophilia Cohort\n\nInclusion Criteria\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Have a prior history of arterial or venous thrombosis. 2. Participants with a known congenital or acquired thrombophilia with or without thrombosis.\n\na. Common congenital thrombophilias: i. Protein C deficiency ii. Protein S deficiency iii. Antithrombin deficiency iv. Factor V Leiden v. Prothrombin gene mutation b. Rare genetic factors i. Hyperhomocysteinemia c. Indeterminate genetic factors i. Elevated factor VIII ii. Elevated factor IX iii. Elevated factor XI iv. Elevated lipoprotein (a) d. Acquired thrombophilias i. Lupus anticoagulant ii. Anti-cardiolipin antibodies\u002FBeta2 glycoprotein antibodies iii. Antiphospholipid syndrome\n\nExclusion Criteria Acquired thrombophilia secondary to medications (birth control pills or hormone replacement therapy), overweight or obesity, smoking, cancer, pregnancy, surgery, injury, prolonged inactivity\u002Fbedrest, heart failure, inflammatory bowel disease, or kidney disease\n\nNon-Neoplastic Hematologic Conditions Cohort\n\nInclusion Criteria\n\nParticipants who meet the following inclusion criteria are eligible for enrollment into this cohort:\n\n1\\. Having any congenital or acquired non-neoplastic hematologic disorder not included in any other cohort\n\nExclusion Criteria None\n\nArm\u002FModule Participant Selection\n\nPreviously Untreated Patients Arm\n\nInclusion Criteria:\n\n1. Diagnosis of congenital hemophilia A (FVIII \\\u003C40%) or hemophilia B (FIX \\\u003C40% or below lower limit for age)\n2. Age \\\u003C18 years at time of enrollment\n3. Parent or authorized guardian or legally authorized representative (LAR) can provide informed consent\n4. Care established at one of the ATHN Transcends participating HTCs\n5. Clotting Factor Concentrate (CFC) exposure, fresh frozen plasma (FFP), cryoprecipitate, and single donor platelets \\\u003C3 exposure days (ED)\n\nExclusion Criteria\n\n1. Concomitant diagnosis with another bleeding disorder\n2. History of a confirmed, positive inhibitor\n\nINHIBIT Module\n\nInclusion Criteria:\n\n1\\. Diagnosis of severe factor VIII deficiency with baseline factor VIII level \\\u003C1% 2. Initiating or plan to initiate prophylaxis with emicizumab or factor replacement 3. Factor concentrate exposure, Fresh Frozen Plasma (FFP), cryoprecipitate, and single donor platelets ≤3 EDs 4. ≤5 years of age\n\nExclusion Criteria\n\n1. Concomitant diagnosis with bleeding disorder other than hemophilia A\n2. Immune disorder\n3. Previous history or presence of factor VIII inhibitor. A confirmed, positive inhibitor is defined as two consecutive positive inhibitor titers (≥ 0.6 BU) that result in changes in treatment recommendations.\n\nEfanesoctocog alfa (ALTUVIIIO®) Module\n\nInclusion criteria:\n\n1. Ability of the potential participant's legally authorized representative (e.g., their parent or legal guardian) to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use confidential health information in accordance with national and local participant privacy regulation.\n2. People with severe HA with a baseline FVIII activity of less than 1%. (While inclusion for participation in ATHN Transcends lists \\\u003C5% FVIII activity, this proposed module will limit enrollment to people with FVIII activity levels of \\\u003C1%.) Other severities may be included per ATHN Transcends PI approval.\n3. \\\u003C18 years of age.\n4. No history of a confirmed, positive FVIII inhibitor.\n5. Sex assigned at birth of male, female, or intersex.\n6. Participants should have no more than three (3) exposure days of blood products (fresh frozen plasma, cryoprecipitate, or platelets), no more than three (3) doses of any FVIII concentrate other than efanesoctocog alfa, and up to three (3) doses of efanesoctocog alfa prior to enrollment.\n7. Site PI confirmed all inclusion criteria has been met.\n\nExclusion criteria:\n\n1. Not meeting all the inclusion criteria; confirmed by site PI.\n2. Any exposure to blood products or FVIII replacement products except as described in the inclusion criteria.\n3. History of positive inhibitor testing.\n4. History of hypersensitivity reactions associated with efanesoctocog alfa administration.\n5. Other coagulation disorder(s) in addition to Hemophilia A.\n6. Any concurrent clinically significant major disease such as cancer that, in the opinion of the investigator, would make the participant unsuitable for enrollment.\n7. Concurrent systemic treatment with chemotherapy and\u002For other immunosuppressant medications. Use of corticosteroids for the treatment of asthma or management of acute allergic or otherwise life-threatening episodes is allowed except for systemic corticosteroid treatment given to children daily or on an alternate day schedule at \\> 2 mg\u002Fkg\u002Fday of prednisone or its equivalent or \\> 20 mg\u002Fday if the duration is longer than 14 days.\n8. Enrollment in a concurrent clinical interventional drug study.\n9. Intake of an Investigational Medicinal Product within three (3) months prior to inclusion in this study.\n10. Inability to comply with study requirements.\n11. Other, unspecified reasons that, in the investigator's opinion, make the participant unsuitable for enrollment.\n\nHemophilia Natural History Arm\n\nInclusion Criteria\n\n1. Congenital or acquired hemophilia A or B of any severity with or without inhibitors receiving a current therapy, a non-factor product, or for whom use of a non-factor product is a possibility, OR\n2. Females of any age, with confirmed congenital hemophilia A or B carrier status with genetic mutational analysis and any factor level.\n\nExclusion Criteria\n\n1. Presence of any known bleeding disorder other than congenital hemophilia A or B\n2. Presence of concurrent hemophilia and a second hemostatic defect (low von Willebrand Factor (vWF) without vWD diagnosis is not excluded)\n3. Unable or unwilling to comply with the study arm protocol.\n\nNonacog beta pegol (Rebinyn®) Module\n\nInclusion Criteria:\n\n1. Has provided signed written consent for the nonacog beta pegol (Rebinyn®)Module before any study-related activities.\n2. Male participants, at any age with hemophilia B, naïve or minimally exposed (up to 3 EDs) to nonacog beta pegol treatment at time of study enrollment. Additional doses may be allowable per ATHN Transcends PI approval.\n3. Decision to initiate continuous prophylaxis treatment with commercially available nonacog beta pegol has been made by the participant(s)\u002FLegally Authorized Representative(s) (LAR(s)) and the treating physician before and independently from the decision to include the participant in this study.\n\nExclusion Criteria:\n\n1. Previous participation in this study. Participation is defined as having given informed consent in this study.\n2. Mental incapacity, unwillingness or language barriers precluding adequate understanding or cooperation, including a diagnosis or suspicion of attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD) per the discretion of the Principal Investigator.\n3. Known or suspected hypersensitivity to nonacog beta pegol or related products.\n4. Clinical suspicion or presence of FIX inhibitor at time of inclusion.\n5. Inability or unwillingness to undergo neurological assessment\u002Fstructured developmental history.\n\nEmicizumab (Hemlibra®) Module\n\nInclusion Criteria:\n\n1. Participant currently treated with emicizumab (Hemlibra®)\n2. Currently enrolled in the Hemophilia Natural History Arm of ATHN Transcends\n\nExclusion Criteria:\n\n1\\. Unable or unwilling to comply with the protocol\n\nDistress Module\n\nInclusion Criteria:\n\n1. Congenital hemophilia A or B of any severity with or without inhibitors receiving a current therapy, a non-factor product, or for whom use of a non-factor product is a possibility\n2. Age 18 years of age or older\n3. English speaking\n\nExclusion Criteria:\n\n1. Presence of any known bleeding disorder other than congenital hemophilia A or B;\n2. Presence of concurrent hemophilia and a second hemostatic defect (low von Willebrand Factor (vWF) without vWD diagnosis is not excluded); and\n3. Unable or unwilling to comply with the study arm protocol\n\nHemophilia Gene Therapy Outcomes Arm\n\nInclusion Criteria\n\n1. Hemophilia A or B of any severity with or without inhibitors having received or will receive a hemophilia gene transfer product in the next 6 months.\n2. Age 18 years and older.\n3. Able to give informed consent.\n\nExclusion Criteria None\n\nEtranacogene dezaparvovec (HEMGENIX®) Module\n\nInclusion Criteria:\n\nEtranacogene dezaparvovec (HEMGENIX®) Cohort\n\n1. Age 18 years of age or older\n2. Treatment with commercial etranacogene dezaparvovec (HEMGENIX®)\n3. Have provided signed written informed consent within 3 months before or within 6 months after etranacogene dezaparvovec (HEMGENIX®) treatment, or within 6 months of when the study is initiated at the treating site.\n\nFIX Prophylaxis Cohort\n\n1. Age 18 years of age or older\n2. Treatment with FIX prophylaxis therapy\n3. Has provided signed written consent at any time for ATHN Transcends Study\n\nExclusion Criteria, both cohorts:\n\n1\\. Have been treated with etranacogene dezaparvovec in a clinical trial prior to commercial availability. These patients are still eligible for enrollment in the Gene Therapy Outcomes Arm, and their data may be collected for separate analysis.\n\nCongenital Platelet Disorders Arm\n\nInclusion Criteria\n\n1. Platelet adhesion defect\n\n   1. Bernard Soulier syndrome (Defective GPIb-IX-V receptor, impaired adhesion to vWF)\n   2. Velocardio-facial syndrome\u002FDiGeorge syndrome (Defective GPIb-IX-V receptor)\n   3. Platelet type vWD (Defective GPIb-IX-V, gain of function interaction between vWF-GP1bα)\n2. Platelet aggregation defect\n\n   1. Glanzmann thrombasthenia (Defective integrin αIIbβ3 (GPIIb\u002FIIIa)\n   2. Platelet aggregation defect, NOS\n3. Agonist receptor defects\n\n   1. Epinephrine\n   2. ADP\n   3. Collagen\n   4. Thromboxane A2\n4. Platelet signaling defects\n\n   1. Cyclooxygenase deficiency (PTGS1 mutation)\n   2. Phospholipase A2 deficiency\n   3. Thromboxane synthase deficiency (TBXAS1 mutation)\n   4. G protein activation defect (GNAS mutation)\n   5. Scott syndrome (defect in phosphatidyl serine translocation)\n5. Platelet Granule disorders\n\n   1. Dense granule storage pool disorder\n\n      * Hermansky Pudlak syndrome\n      * Chediak Higashi syndrome\n      * Griscelli syndrome\n   2. Alpha granule storage pool disorder\n\n      * Grey platelet syndrome\n      * Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) syndrome\n      * Quebec platelet disorder\n      * Paris-Trousseau syndrome\n   3. Combined alpha delta granule deficiency\n6. Platelet cytoskeletal structure defects\n\n   1. Wiskott Aldrich syndrome\n   2. MYH9 associated disorders (myosin heavy chain)\n\n      * May Hegglin syndrome\n      * Fechtner syndrome\n      * Sebastian syndrome\n      * Epstein syndrome\n   3. Other mutations\n\n      * FLNA mutations (Filamin)\n      * DIAPH1 (Actin and microtubules)\n      * ACTN1 (alpha actinin)\n      * TPM4 (tropomyosin)\n      * TUBB1 (beta tubulin)\n7. Other Congenital thrombocytopenias\n\n   1. Familial platelet disorders and predisposition to AML (RUNX1)\n   2. X linked thrombocytopenia with dyserythropoiesis (GATA1)\n   3. Congenital amegakaryocytic thrombocytopenia (MPL)\n\nExclusion Criteria\n\n1. Diagnosis of von Willebrand Disease (Meeting the definition of vWD or low vWF per most recent international guidelines)\n2. Diagnosis of Hemophilia A or Hemophilia B (Factor VIII or IX ≤ 40%)\n\nGlanzmann Thrombasthenia (GT) Module\n\nInclusion Criteria\n\n1. Participant has signed the informed consent\u002Fassent form\n2. Participant has flow cytometry or aggregometry or genetics confirmed GT\n3. Participant is willing to perform study procedures, including daily bleed tracking for 3 months and further if requested\n4. Participants are 2 years or older at time of consent\n\nExclusion Criteria None","ALL",{"count":18,"type":19},3000,"ESTIMATED","OBSERVATIONAL","In parallel with the growth of ATHN's clinical studies, the number of new therapies for all blood disorders is increasing significantly. Some of the recently FDA-approved therapies for congenital and acquired hematologic conditions have not yet demonstrated long-term safety and effectiveness beyond the pivotal trials that led to their approval. In addition, results from well controlled, pivotal studies often cannot be replicated once a therapy has been approved for general use.2,3,4,5\n\nIn 2019 alone, the FDA has issued approvals for 24 new therapies for congenital and acquired hematologic conditions.6 In addition, almost 10,000 new studies for hematologic diseases are currently registered on www.clinicaltrials.gov.7\n\nWith this increase in potential new therapies possible, it is imperative that clinicians and clinical researchers in the field of non-neoplastic hematology have a uniform, secure, unbiased, and enduring method to collect long-term safety and efficacy data. As emphasized in a recently published review, accurate, uniform and quality national data collection is critical in clinical research, particularly for longitudinal cohort studies covering a lifetime of biologic risk.8",[23,24,25,26,27,28,29,30,31,32,33,34,35],"Hematologic Disorder","Bleeding Disorder","Connective Tissue Disorder","Hemophilia","Thrombosis","Von Willebrand Diseases","Thrombophilia","Rare Bleeding Disorder","Platelet Disorder","Factor IX Deficiency","Factor VIII Deficiency","Thalassemia","Sickle Cell Disease","RECRUITING","2026-07-10",{"date":39,"type":40},"2026-07-13","ACTUAL",{"date":42,"type":40},"2020-09-30",{"date":44,"type":19},"2035-12",{"name":46,"class":47},"American Thrombosis and Hemostasis Network","NETWORK",71,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":56,"enrollmentInfo":57,"targetDuration":4,"studyType":59,"phases":60,"briefSummary":62,"conditions":63,"keywords":4,"overallStatus":68,"whyStopped":4,"lastUpdateSubmitDate":69,"lastUpdatePostDateStruct":70,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":4},"100054233","phase-2-dexamethasone-intravenous-injection-of-human-immunoglobulin-and-increased-infusion-of-mononuclear-cells-to-reduce-donor-specific-antibodies-in-haploid-hematopoietic-stem-cell-transplantation-a-prospective-multicenter-study-100054233","NCT07698080","Dexamethasone, Intravenous Injection of Human Immunoglobulin, and Increased Infusion of Mononuclear Cells to Reduce Donor Specific Antibodies in Haploid Hematopoietic Stem Cell Transplantation: a Prospective, Multicenter Study","Inclusion Criteria:\n\n1. Diagnosis of benign or malignant hematological diseases (including leukemia, lymphoma, thalassemia, aplastic anemia, myelodysplastic syndromes, etc.) confirmed by NCCN guidelines, and determined by the investigator to require allogeneic hematopoietic stem cell transplantation.\n2. Eastern Cooperative Oncology Group (ECOG) performance status ≤ 3.\n3. Donor-specific antibody (DSA) mean fluorescence intensity (MFI) \\> 500.\n4. Age between 18 and 65 years (age limits are also captured separately in the eligibility module).\n5. Body weight between 40 kg and 100 kg.\n6. No other suitable donor available (i.e., no DSA-negative related donor or unrelated donor).\n\nExclusion Criteria:\n\n1. Patients unsuitable for transplantation or without willingness to undergo transplantation, or diagnosed with non-hematological diseases.\n2. Estimated life expectancy \\\u003C 1 month.\n3. Known allergy to any drug or intervention used in the study regimen.\n4. Pregnancy, lactation, active severe infection, or severe major organ dysfunction.\n5. Severe psychiatric or neurological disorders that may affect the ability to provide informed consent and\u002For to report adverse events or comply with observation.\n6. Refusal or inability to sign the informed consent form.","18 Years","65 Years",{"count":58,"type":19},60,"INTERVENTIONAL",[61],"PHASE2","This study tests whether a combination of three treatments - dexamethasone (a steroid), intravenous immunoglobulin (IVIG, a protein that helps the immune system), and an extra dose of donor mononuclear cells - can safely lower harmful antibodies called donor-specific antibodies (DSA) in patients who need a stem cell transplant from a half-matched (haploidentical) family donor.\n\nIn these transplants, DSA are antibodies made by the patient's own body that attack the donor's stem cells. If DSA levels are high, the transplant is more likely to fail - the donor cells may not \"take\" (engraft). Currently, there is no single, simple, and reliable way to reduce DSA, and many existing methods have drawbacks.\n\nBased on our earlier experience in 11 patients, this three-part approach seemed to work well. All patients successfully engrafted, and DSA levels dropped quickly. Now we want to confirm these results in a larger, prospective, multicenter study.\n\nWe plan to enroll 60 patients aged 18-65 with blood cancers or other blood disorders who need a haploidentical transplant, have DSA levels above 500 MFI (a measure of antibody strength), and have no other suitable donor available. Participants will receive:\n\n* Dexamethasone (25 mg\u002Fm²) for 4 days before transplant,\n* IVIG (1 g\u002Fkg) one day before transplant,\n* Extra mononuclear cells on transplant day - the extra amount depends on how high their DSA level is (low, medium, or high).\n\nThe main goal is to see how many patients have primary graft failure (when the donor cells never engraft). We will also measure how long it takes for blood counts to recover, rates of graft-versus-host disease, survival, and side effects. All participants will be followed for 1 year.\n\nThis study will help us find out whether this combination is a safe, simple, and effective way to improve transplant success for patients with DSA who have no other donor options.",[64,65,34,66,67],"Leukemia","Lymphoma","Aplastic Anemia","Myelodysplastic Syndromes","NOT_YET_RECRUITING","2026-07-07",{"date":39,"type":40},{"date":72,"type":19},"2026-07-03",{"date":74,"type":19},"2028-07-03",{"name":76,"class":77},"Hematology department of the 920th hospital","OTHER",{"id":79,"slug":80,"hasResults":11,"nctId":81,"briefTitle":82,"officialTitle":83,"acronym":4,"eligibilityCriteria":84,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":85,"targetDuration":4,"studyType":59,"phases":87,"briefSummary":89,"conditions":90,"keywords":4,"overallStatus":68,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":100},"100644722","safety-and-efficacy-of-hemoglobin-f-inducers-in-patients-with-beta-thalassemia-100644722","NCT07673302","Safety and Efficacy of Hemoglobin F Inducers in Patients With Beta Thalassemia","Safety and Efficacy of Hemoglobin F Inducers in Patients With Beta Thalassemia: a Prospective 12 Months Study","Inclusion criteria:\n\n* Confirmed diagnosis of Beta thalassemia Major (BTM) ascertained by Hemoglobin Electrophoresis or HPLC report performed pre-transfusion or genetic testing profile (comprising PCR or HBB gene sequencing) suggestive of β-thalassemia syndrome.\n* All ages and both genders will be included\n* Written informed consent\n\nExclusion criteria:\n\n* Pregnancy or unwilling to follow contraception or planning conception (Enrolled female patients will be strictly advised to avoid pregnancy during the study period and until 6 months after thalidomide withdrawal.\n* Hemoglobinopathies other than beta thalassemia\n* History of neurological problems\n* Inability to regularly follow up",{"count":86,"type":19},240,[88],"NA","The aim of this study is to determine the safety and therapeutic effect of HbF inducers (combination therapy: thalidomide and hydroxyurea) on beta thalassemia patients. The main objectives of this study are:\n\n* To determine the therapeutic efficacy of HbF inducers (combination therapy: thalidomide and hydroxyurea) on hemoglobin level and blood transfusion in beta thalassemia patients.\n* To determine the safety of HbF inducers (combination therapy: thalidomide and hydroxyurea) in beta thalassemia patients\n* To determine effect of HbF inducers (combination therapy: thalidomide and hydroxyurea) on quality of life of beta thalassemia patients",[34],"2026-06-23",{"date":93,"type":40},"2026-06-29",{"date":95,"type":19},"2026-06-20",{"date":97,"type":19},"2027-06-19",{"name":99,"class":77},"Riphah International University",1,{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":106,"acronym":107,"eligibilityCriteria":108,"healthyVolunteers":11,"sex":16,"minAge":109,"maxAge":4,"enrollmentInfo":110,"targetDuration":4,"studyType":59,"phases":112,"briefSummary":114,"conditions":115,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":116,"lastUpdatePostDateStruct":117,"startDateStruct":119,"completionDateStruct":121,"leadSponsor":123,"locationsCount":126},"100562904","phase-3-a-research-study-looking-at-long-term-treatment-with-etavopivat-in-people-with-sickle-cell-disease-or-thalassaemia-100562904","NCT06609226","A Research Study Looking at Long-term Treatment With Etavopivat in People With Sickle Cell Disease or Thalassaemia","An Open-label, Multi-centre, Rollover Study to Characterise Long-term Safety and Efficacy of Etavopivat in Adults, Adolescents and Children Who Have Sickle Cell Disease or Thalassaemia and Have Completed a Treatment Period in an Etavopivat Study","FLORAL","Inclusion Criteria:\n\n* Participant must have ongoing participation in an etavopivat parent study for treatment of sickle cell disease (SCD) or thalassaemia and have completed at least a treatment period of the parent study.\n* Participant must have derived clinical benefit from treatment with etavopivat, as determined by the investigator.\n* Any participant with dose reduction or temporary discontinuation will need to be successfully rechallenged to the full dose of etavopivat before transferring.\n* Participants on hydroxyurea (HU), crizanlizumab or l-glutamine oral powder (Endari®) treatment at the time of consent may be eligible if they have been on a stable dose in the parent study as defined at the investigator's discretion. Necessary adjustments related to weight or age are accepted. Participants with temporary dose reductions or pauses due to medical reasons may still be considered to have a stable dose, as determined by the investigator, who will assess the impact of these adjustments based on clinical context and the participant's overall health status.\n\nExclusion Criteria:\n\n* Any disorder, except for conditions associated with SCD or thalassaemia, which in the investigator's opinion might jeopardise participant's safety or compliance with the protocol.\n* Participant withdrew or had permanent treatment discontinuation from an etavopivat clinical study.\n* Participants on permanent dose reduction (greater than \\[\\>\\] 28 days or more) or ongoing temporary treatment discontinuation.\n* Use of any of the following within the timeframes prior to the transfer visit as stated:\n* Use of haemoglobin S (HbS) polymerisation inhibitors within participation of the parent study or anticipated need for this agent during this study.\n* Use of an experimental selectin antagonist (e.g., monoclonal antibody or small molecule) within the parent study or anticipated need for such agents during this study.\n* Use of erythropoietin or other haematopoietic growth factor treatment for more than 4 consecutive weeks during the parent study or anticipated need of such agents for a maintenance treatment during this study.\n* Receiving or use of concomitant medications that are strong inducers of cytochrome P450 (CYP) 3A4 within 2 weeks of the transfer visit or anticipated need for such agents during the study.\n* Current participation in a study that is not a designated parent study, or planned participation in any other clinical study, for the duration of FLORAL.","2 Years",{"count":111,"type":19},480,[113],"PHASE3","Etavopivat is a new medicine under development for treating blood disorders like sickle cell disease and thalassaemia. Sickle cell disease and thalassaemia are inherited blood disorders that affect haemoglobin. Haemoglobin is the protein that carries oxygen through the body. This study is looking into how safe treatment with etavopivat is and how well it works over a long period of time. The study will last for up to 264 weeks, but it will end earlier if etavopivat is approved in the participant's country.",[35,34],"2026-06-08",{"date":118,"type":40},"2026-06-10",{"date":120,"type":40},"2025-01-10",{"date":122,"type":19},"2030-12-30",{"name":124,"class":125},"Novo Nordisk A\u002FS","INDUSTRY",105,{"id":128,"slug":129,"hasResults":11,"nctId":130,"briefTitle":131,"officialTitle":132,"acronym":4,"eligibilityCriteria":133,"healthyVolunteers":11,"sex":16,"minAge":109,"maxAge":134,"enrollmentInfo":135,"targetDuration":4,"studyType":59,"phases":137,"briefSummary":138,"conditions":139,"keywords":141,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":147,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":153,"locationsCount":154},"100495839","phase-2-a-study-of-immune-suppression-treatment-for-people-with-sickle-cell-disease-or--thalassemia-who-are-going-to-receive-an-allogeneic-hematopoietic-cell-transplantation-hct-100495839","NCT05736419","A Study of Immune Suppression Treatment for People With Sickle Cell Disease or β-Thalassemia Who Are Going to Receive an Allogeneic Hematopoietic Cell Transplantation (HCT)","Pre-Transplant Immune Suppression With Hematopoietic Cell Transplantation From Haploidentical Donors for Adults and Children With Sickle Cell Disease or ß-Thalassemia (Haplo PTCy)","Inclusion Criteria:\n\n* Age ≥ 2 and ≤ 50 years\n* Suitable haploidentical donor.\n* Performance score ≥ 70% by Karnofsky Performance Scale or 0 to 1 by ECOG (age \\> 16 years), or Lansky Play-Performance Scale ≥ 70% (age ≤ 16 years).\n* Adequate major organ system function as demonstrated by:\n\n  * For patients ≥ 18 years of age:\n  * eGFR ≥ 50 mL\u002Fmin by Cockcroft-Gault formula Formula: ((140 - Age) x Weight (kg)) \u002F (72 x Serum Creatinine (mg\u002FdL) Female Adjustment: Multiply result by 0.85\n  * For patients \\\u003C 18 years of age:\n  * Serum creatinine clearance: glomerular filtration rate \\[GFR\\]) must be \\>50 mL\u002Fmin\u002F1.73 m2 as calculated by the Schwartz formula\n* Conjugated (direct) bilirubin less than 3x upper limit of normal.\n* ALT or AST ≤ 3 times institutional upper limit of normal.\n* Left ventricular ejection fraction ≥ 50%.\n* Diffusing capacity for carbon monoxide (DLCO) ≥ 50% predicted, corrected for hemoglobin. For children \\\u003C 7 years of age who are unable to perform PFT, oxygen saturation \\> 92% on room air by pulse oximetry.\n* For SCD patients: HbSS, HbSC, HbS\u002Fβ° with one or more of the following complications:\n\n  * Acute chest syndrome: 2 or more episodes in the 2 years preceding enrollment\n  * Vaso-occlusive episodes: 3 or more episodes in the 2 years preceding enrollment\n  * Recurrent priapism: 2 or more episodes in the 2 years preceding enrollment\n  * History of osteomyelitis or osteonecrosis\n  * Cerebrovascular disease:\n* Imaging evidence of prior overt or silent stroke\n* History of a neurologic event resulting in focal neurologic deficits lasting \\> 24 hours\n* Abnormal transcranial Doppler: Timed average maximum mean velocity ≥ 200 cm\u002Fsec in terminal portion of the carotid or proximal portion of the middle cerebral artery or \\> 185 cm\u002Fsec plus evidence of intracranial vasculopathy if imaging TCD is used\n\n  * Pulmonary hypertension: Confirmed by right heart catheterization with mean pulmonary arterial pressure ≥ 25 mmHg or mean pulmonary vascular resistance \\> 2 Wood units\n  * Red blood cell alloimmunization (\\> 3 alloantibodies)\n* For thalassemia patients: Any genotype, with all of the following:\n\n  * Onset of red blood cell transfusion dependence during the first 3 years of life\n  * RBC transfusion history \\> 225 mL\u002Fkg\u002Fyear or \\> 15 lifetime RBC transfusions\n  * Pre-transfusion hemoglobin ≤ 7 g\u002FdL\n  * Hepatosplenomegaly\n* Patient or the patient's legal representative, parent(s) or guardian should be able to provide written informed consent. Assent of a minor if participant's age is at least seven and less than eighteen years.\n* For sexually active men and women of childbearing potential, must agree to use a form of contraception considered effective and medically acceptable by the Investigator.\n\nExclusion Criteria:\n\n* Prior myeloablative allogeneic HCT.\n* Overt stroke or CNS instrumentation (e.g. for Moyamoya disease) within 6 months of enrollment.\n* Liver cirrhosis. Mild fibrosis will be permitted, i.e. fine reticulin or grade 1 of 4, with bridging fibrosis.\n* Hepatic iron content ≥ 3 mg Fe\u002Fg liver dry weight, if applicable\n* Active hepatitis B or C.\n* Other uncontrolled infections.\n* Other malignancy\u002Fcancer diagnosis unless in remission after definitive therapy for a minimum of 2 years. Exceptions: Ductal carcinoma in situ, basal cell carcinoma, cervical intraepithelial neoplasia.\n* Positive pregnancy test in a woman with child-bearing potential, defined as not post-menopausal for 12 months or no previous surgical sterilization.\n* Inability to comply with medical therapy or follow-up.\n* Known history of allergic reactions to any constituents of the stem cell product, including a known history of allergic reactions to DMSO.","50 Years",{"count":136,"type":19},24,[61],"Hematopoietic Cell Transplantation\u002FHCT involves receiving healthy blood-forming cells (stem cells) from a donor to replace the diseased or damaged cells in participants' bone marrow. The researchers think giving participants treatment with fludarabine and dexamethasone, drugs that lower the activity of the body's immune system (immune suppression), before standard conditioning therapy and HCT may help prevent serious side effects, including graft failure and GvHD. In this study, depending on how participants' body responds to the fludarabine and dexamethasone, the study doctor may decide participants should receive another drug, called cyclophosphamide, instead of fludarabine. In addition, depending on the results of participants' routine blood tests, participants may receive the drugs bortezomib and rituximab, which also help with immune suppression.",[35,140,34],"Thalassemia, Beta",[142,35,143,34,144,145],"allogeneic hematopoietic cell transplantation","Beta Thalassemia","23-009","Memorial Sloan Kettering Cancer Center","2026-06-02",{"date":148,"type":40},"2026-06-03",{"date":150,"type":40},"2023-02-09",{"date":152,"type":19},"2027-02-09",{"name":145,"class":77},6,{"id":156,"slug":157,"hasResults":11,"nctId":158,"briefTitle":159,"officialTitle":160,"acronym":4,"eligibilityCriteria":161,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":4,"enrollmentInfo":162,"targetDuration":4,"studyType":59,"phases":164,"briefSummary":165,"conditions":166,"keywords":4,"overallStatus":68,"whyStopped":4,"lastUpdateSubmitDate":167,"lastUpdatePostDateStruct":168,"startDateStruct":170,"completionDateStruct":172,"leadSponsor":174,"locationsCount":176},"100639052","phase-2-a-study-of-snh-119014-in-adult-participants-with-non-transfusion-dependent-thalassemia-ntdt-100639052","NCT07579949","A Study of SNH-119014 in Adult Participants With Non-transfusion-dependent Thalassemia (NTDT)","A Phase 2 Study to Determine the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of SNH-119014 in Adult Subjects With Non-transfusion-dependent Thalassemia","Inclusion Criteria:\n\n* Male or Female;\n\n  -≥18 years;\n* Documented diagnosis of thalassemia;\n* Non-transfusion-dependent;\n* Hb concentration ≤10.0 grams per deciliter (g\u002FdL) during the screening period;\n* For women of reproductive potential: negative serum pregnancy test during the screening period;\n* Agreement to use approved contraceptive measures;\n* Informed consent;\n\nExclusion Criteria:\n\n* Hemoglobin S forms of thalassemia;\n* History of Congestive Heart Failure Within 6 months prior to signed informed consent;\n* Myocardial Infarction\u002Funstable angina Within 6 months prior to signed informed consent;\n* Deep Vein Thrombosis\u002Fstroke\u002Fthromboembolic events Within 6 months prior to signed informed consent;\n* Poorly controlled hypertension or diabetes;\n* Markedly abnormal QTcF interval;\n* Severe arrhythmia requiring treatment as assessed by the investigator;\n* Markedly abnormal left ventricular ejection fraction;\n* Diagnosis of any other congenital or acquired hematologic disorder, or any other hemolytic process;\n* Active infection requiring intravenous antibiotics or of Grade ≥3 severity within 4 weeks prior to the first dose;\n* History of primary malignancy, except for: cured non-melanoma skin cancer; curatively treated cervical or breast carcinoma in situ; or other primary tumors treated with curative intent with no known active disease and no treatment in the past 5 years;\n* History of neurological or psychiatric disorders that, in the investigator's assessment, may affect the participant's ability to participate in the clinical study;\n* Post-splenectomy sepsis;\n* Severe pulmonary disease or hepatobiliary disease;\n* Abnormal laboratory tests during screening;\n* Use of luspatercept, hydroxyurea, erythropoietin, strong CYP3A4 inhibitors, or strong CYP3A4 inducers within the prohibited period specified in the protocol;\n* Receipt of anticoagulant therapy prior to screening, or requirement for anticoagulant therapy during the study period;\n* Prior bone marrow or stem cell transplant;\n* Pregnant or lactating women;\n* Major surgery within 6 months prior to signing informed consent or planned during the study period;\n* Splenectomy scheduled during the study treatment period;\n* Participation in another clinical trial and receipt of investigational treatment within 3 months;\n* History of severe allergy, or allergy to SNH-119014 or its excipients;\n* Any other condition that, in the investigator's opinion, makes the participant unsuitable for enrollment.",{"count":163,"type":19},30,[61],"This study is a multicenter study to evaluate the safety, efficacy, pharmacokinetics, and pharmacodynamics of treatment with SNH-119014 in adult participants with non-transfusion-dependent thalassemia. 30 participants with non-transfusion-dependent thalassemia were enrolled.",[34],"2026-05-06",{"date":169,"type":40},"2026-05-12",{"date":171,"type":19},"2026-06-18",{"date":173,"type":19},"2027-04-29",{"name":175,"class":125},"ScinnoHub Pharmaceutical Co., Ltd.",8,{"id":178,"slug":179,"hasResults":11,"nctId":180,"briefTitle":181,"officialTitle":182,"acronym":4,"eligibilityCriteria":183,"healthyVolunteers":11,"sex":16,"minAge":184,"maxAge":185,"enrollmentInfo":186,"targetDuration":4,"studyType":59,"phases":188,"briefSummary":189,"conditions":190,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":196,"lastUpdatePostDateStruct":197,"startDateStruct":199,"completionDateStruct":201,"leadSponsor":203,"locationsCount":154},"100475948","phase-3-evaluation-of-efficacy-and-safety-of-a-single-dose-of-ctx001-in-participants-with-transfusion-dependent--thalassemia-and-severe-sickle-cell-disease-100475948","NCT05477563","Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease","A Phase 3b Study to Evaluate Efficacy and Safety of a Single Dose of Autologous CRISPR Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (CTX001) in Subjects With Transfusion-Dependent β-Thalassemia or Severe Sickle Cell Disease","Key Inclusion Criteria:\n\n* Participants with TDT and SCD:\n* Eligible for autologous stem cell transplant as per investigator's judgment.\n* Participants with TDT:\n* Diagnosis of TDT as defined by:\n* Documented homozygous β-thalassemia or compound heterozygous β-thalassemia including β-thalassemia\u002Fhemoglobin E (HbE). Participants can be enrolled based on historical data, but a confirmation of the genotype using the study central laboratory will be required before busulfan conditioning\n* History of at least 100 milliliter (mL)\u002Fkilograms (kg)\u002Fyear or 10 units\u002Fyear of packed red blood cells (RBC) transfusions in the prior 2 years before signing the consent or the last rescreening for patients going through re-screening\n* Participants with SCD:\n* Diagnosis of severe SCD as defined by:\n* Documented SCD genotypes\n* History of at least two severe VOCs events per year for the previous two years prior to enrollment\n\nKey Exclusion Criteria:\n\n* Participants with TDT and SCD:\n* A willing and healthy 10\u002F10 human leukocyte antigen (HLA)-matched related donor is available per investigator's judgement\n* Prior hematopoietic stem cell transplant (HSCT)\n* Clinically significant and active bacterial, viral, fungal, or parasitic infection as determined by the investigator\n* Participants with TDT:\n* Participants with associated α-thalassemia and \\>1 alpha deletion, or alpha multiplications\n* Participants with sickle cell β-thalassemia variant\n* Participants with SCD:\n* History of untreated moyamoya syndrome or presence of moyamoya syndrome at screening\n\nOther protocol defined Inclusion\u002FExclusion criteria may apply.","12 Years","35 Years",{"count":187,"type":19},26,[113],"This is a single-dose, open-label study in participants with transfusion-dependent β-thalassemia (TDT) or severe sickle cell disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) using CTX001.",[191,34,192,193,194,35,195],"Beta-Thalassemia","Hematologic Diseases","Genetic Diseases, Inborn","Hemoglobinopathies","Sickle Cell Anemia","2026-03-18",{"date":198,"type":40},"2026-03-23",{"date":200,"type":40},"2022-08-02",{"date":202,"type":19},"2027-06-09",{"name":204,"class":125},"Vertex Pharmaceuticals Incorporated",{"id":206,"slug":207,"hasResults":11,"nctId":208,"briefTitle":209,"officialTitle":209,"acronym":4,"eligibilityCriteria":210,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":211,"enrollmentInfo":212,"targetDuration":4,"studyType":59,"phases":214,"briefSummary":216,"conditions":217,"keywords":219,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":222,"lastUpdatePostDateStruct":223,"startDateStruct":225,"completionDateStruct":227,"leadSponsor":229,"locationsCount":100},"100540173","early-phase-1-determination-of-red-cell-survival-in-sickle-cell-disease-and-other-hemoglobinopathies-using-biotin-labeling-100540173","NCT06313398","Determination of Red Cell Survival in Sickle Cell Disease and Other Hemoglobinopathies Using Biotin Labeling","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Provision of signed and dated informed consent form\n2. Stated willingness to comply with all study procedures and availability for the duration of the study\n3. Male or female, aged 18 years or greater with confirmed diagnosis of SCD (all genotypes), thalassemia (beta and\u002For alpha), or other inherited hemoglobinopathy not otherwise specified.\n4. Be at steady state for their underlying disease (e.g. SCD or thalassemia) or post-bone marrow transplantation status, as evidenced by medical history.\n5. Ability to have blood samples drawn.\n6. For female participants of child-bearing potential, agree to use birth control during study participation. Female subjects of child-bearing potential must agree to use a medically acceptable method of birth control such as an oral contraceptive, intrauterine device, barrier and spermicide, or contraceptive implant\u002Finjection from start of screening through 4 months after infusion.\n7. Agreement to adhere to Lifestyle Considerations throughout study duration\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Consumption of biotin supplements or raw eggs within the last 30 days.\n2. Blood loss within the previous 8 weeks (\\>540 mL).\n3. Red cell transfusion for their underlying SCD and\u002For thalassemia within the last 3 months.\n\n   a. Participants may be eligible after three months following their last transfusion.\n4. Patients on hemodialysis, due to possibility of early removal of biotinylated RBCs.\n5. Pregnancy, lactation or absence of adequate contraception for fertile female subjects.\n6. Pediatric subjects will not participate in this study.\n7. Known allergic reactions to biotin, due to risk of possible life-threatening allergic reaction.\n8. Current diagnosis of malignancy (liquid and\u002For solid).","100 Years",{"count":213,"type":19},100,[215],"EARLY_PHASE1","Background:\n\nSickle cell disease (SCD) is an inherited disorder of the blood. SCD causes red blood cells (RBCs) to die early. This can lead to a shortage of healthy cells. SCD and other blood disorders can be managed with drugs or cured with a bone marrow transplant. Researchers want to know how long RBCs survive in people with SCD and other blood disorders before and after treatment compared to those who had a bone marrow transplant.\n\nObjective:\n\nTo learn how long RBCs survive in the body in people with SCD and other blood disorders compared to those whose disease was cured with a bone marrow transplant.\n\nEligibility:\n\nPeople aged 18 years or older with SCD or another inherited blood disorder. People whose SCD or blood disorder was cured with a bone marrow transplant are also needed.\n\nDesign:\n\nParticipants will be screened. They will have a physical exam with blood and urine tests.\n\nParticipants will have about 7 tablespoons of blood drawn. In the lab, this blood will be mixed with a vitamin called biotin. Biotin sticks to the outside of RBCs. This process is called \"biotin labeling of RBCs.\" The next day, the participant s own biotin-labeled RBCs will be returned to their bloodstream.\n\nParticipants will return regularly to have smaller blood samples (about 2 teaspoons) drawn. These samples will be tested to detect the percentage of cells that have biotin labels. These visits may be every 2 weeks, 4 weeks, or some other interval. Participants will continue this schedule for up to 20 weeks or until biotin can no longer be detected....",[35,34,218],"Hemoglobinopathy",[220,218,34,35,221],"Red Cell","Biotin","2026-02-21",{"date":224,"type":40},"2026-02-24",{"date":226,"type":40},"2024-05-17",{"date":228,"type":19},"2029-06-15",{"name":230,"class":231},"National Heart, Lung, and Blood Institute (NHLBI)","NIH",{"id":233,"slug":234,"hasResults":11,"nctId":235,"briefTitle":236,"officialTitle":236,"acronym":4,"eligibilityCriteria":237,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":4,"enrollmentInfo":238,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":240,"conditions":241,"keywords":243,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":222,"lastUpdatePostDateStruct":246,"startDateStruct":247,"completionDateStruct":249,"leadSponsor":251,"locationsCount":100},"100478358","atrial-fibrillation-in-beta-thalassemia-100478358","NCT05508932","Atrial Fibrillation in Beta-Thalassemia","Inclusion Criteria:\n\n1. Transfusion-dependent Beta-thalassemia;\n2. Follow-Up at the Cardiology Unit of the University Hospital of Ferrara;\n3. Electrocardiogram performed;\n4. Echocardiogram performed.\n\nExclusion Criteria:\n\n1. Age \\\u003C18 years;\n2. State Of pregnancy;\n3. Inability to give informed consent.",{"count":239,"type":19},350,"The study aims to evaluate the clinical, laboratory and instrumental differences that exist between beta-thalassemia patients with atrial fibrillation and those not affected by arrhythmia.",[242,34],"Atrial Fibrillation",[242,34,244,245,194],"Thalassaemia","Arrhythmia",{"date":224,"type":40},{"date":248,"type":40},"2022-09-01",{"date":250,"type":19},"2032-07-01",{"name":252,"class":77},"University Hospital of Ferrara",{"id":254,"slug":255,"hasResults":11,"nctId":256,"briefTitle":257,"officialTitle":258,"acronym":259,"eligibilityCriteria":260,"healthyVolunteers":11,"sex":16,"minAge":55,"maxAge":211,"enrollmentInfo":261,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":263,"conditions":264,"keywords":266,"overallStatus":68,"whyStopped":4,"lastUpdateSubmitDate":270,"lastUpdatePostDateStruct":271,"startDateStruct":273,"completionDateStruct":275,"leadSponsor":277,"locationsCount":4},"100620073","evaluation-of-the-quality-of-life-in-patients-with-chronic-iron-overload-due-to-hemoglobinopathies-in-greece-100620073","NCT07352878","Evaluation of the Quality of Life in Patients With Chronic Iron Overload Due to Hemoglobinopathies in Greece.","Evaluation of the Quality of Life in Patients With Chronic Iron Overload Due to Hemoglobinopathies in Greece, Who Are Under Treatment With Deferasirox, Based on Standard Clinical Practice.","FEROUSA","Inclusion Criteria:\n\n* 1\\. Adult patients (≥ 18 years). 2. Patients with major beta-thalassemia with iron overload due to frequent blood transfusions (≥7 ml\u002Fkg\u002Fmonth of packed red blood cells).\n\n  3\\. Patients with chronic iron overload due to blood transfusions if deferoxamine therapy is contraindicated or insufficient in the following patient groups:\n  * adult patients with major beta-thalassemia with iron overload due to infrequent blood transfusions (\\\u003C7 ml\u002Fkg\u002Fmonth of packed red blood cells).\n  * adult patients with other types of anemia.\n\n    4\\. Patients with non-transfusion-dependent thalassemia syndromes with chronic iron overload requiring chelation therapy when deferoxamine therapy is contraindicated or insufficient.\n\n    5\\. Patients who were receiving deferasirox before their inclusion in the study (90, 180, 360, 900 mg) and at their inclusion require treatment with deferasirox at least 900 mg, as part of the treatment of chronic iron overload and according to the SPC.\n\n    6\\. Consent and compliance of participants with the treatments and procedures of the study.\n\n    7\\. Patients for whom data from the last six months from the date of inclusion (medical history, concomitant medication) are available to determine the endpoints.\n\nExclusion Criteria:\n\n* 1\\. Patients under 18 years of age. 2. Patients with myelodysplastic syndromes. 3. Patients with a contraindication to taking deferasirox 90, 180, 360, 900 mg according to the drug's SmPC.\n\n  4\\. Patients receiving or expect to receive another chelating agent (e.g. deferoxamine, deferiprone) in addition to deferasirox, during the study.\n\n  5\\. Patients with a history of mental illness, substance abuse, to a degree that may prevent their participation in the study.\n\n  6\\. Patients are participating in another research protocol.",{"count":262,"type":19},150,"This observational clinical study aims to evaluate the HRQoL of thalassemia patients with iron overload in Greece, who are under treatment with deferasirox based on standard clinical practice.",[34,265],"Iron Overload",[267,268,269],"quality of life","iron overload","treatment satisfaction","2026-01-13",{"date":272,"type":40},"2026-01-20",{"date":274,"type":19},"2026-04-15",{"date":276,"type":19},"2027-12-31",{"name":278,"class":125},"Elpen Pharmaceutical Co. Inc.",{"id":280,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":281,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":282,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":283,"lastUpdatePostDateStruct":284,"startDateStruct":286,"completionDateStruct":287,"leadSponsor":288,"locationsCount":48},"100393100",{"count":18,"type":19},[23,24,25,26,27,28,29,30,31,32,33,34,35],"2026-01-09",{"date":285,"type":40},"2026-01-12",{"date":42,"type":40},{"date":44,"type":19},{"name":46,"class":47},{"id":290,"slug":291,"hasResults":11,"nctId":292,"briefTitle":293,"officialTitle":294,"acronym":4,"eligibilityCriteria":295,"healthyVolunteers":11,"sex":16,"minAge":296,"maxAge":297,"enrollmentInfo":298,"targetDuration":4,"studyType":59,"phases":300,"briefSummary":301,"conditions":302,"keywords":303,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":308,"lastUpdatePostDateStruct":309,"startDateStruct":311,"completionDateStruct":313,"leadSponsor":315,"locationsCount":317},"100597934","effect-of-exercise-on-body-composition-and-bone-health-in-patients-with-thalassemia-100597934","NCT07064941","Effect of Exercise on Body Composition and Bone Health in Patients With Thalassemia","Effect of Aerobic Exercise Paired With Strength Conditioning on Bone Health in Patients With Thalassemia","Inclusion Criteria:\n\n* Age: 14 - 40 years\n* BMD Z-score at any skeletal site \\\u003C -1.0\n* Diagnosed with thalassemia (any genotype, regardless of transfusion dependency)\n* Vitamin D (25-Hydroxy) drawn within the previous 12 months \\>20 ng\u002FmL\n* English speaking, able to consent\n\nExclusion Criteria:\n\n* Patients who self-identify as 'exercisers' e.g. routinely exercise for minimum of 45 min\u002Fday, 5x\u002Fweek\n* Pregnant (unable to conduct bone density measurements in pregnant females)\n* Hypogonadal, must be on replacement sex hormone therapy for min of 6 months\n* Cardiac T2\\* by Magnetic Resonance Imaging of \\\u003C20 ms (e.g. evidence of cardiac iron overload)\n* Recent long bone or vertebral fracture (within the last 6 months)\n* Cognitive impairment limiting ability to understand instructions during orientation\n* Other conditions known to influence bone health or body composition as determined by the investigator\n* Patients at risk for cardiovascular disease yet have not received a routine cardiology assessment within the previous 12 months\n* Bone medication (e.g. Zometa, Prolia, Forteo) use in previous 2 years","14 Years","40 Years",{"count":299,"type":19},20,[88],"The goal of this clinical trial is to determine if a weight bearing exercise intervention can improve body composition and bone health in adolescents and adults with Thalassemia.\n\nThe main questions it aims to answer are:\n\n* Does participation in a 12-week weight bearing exercise intervention change total body lean mass and percentage body fat (as assessed by DXA) in adolescents and adults with Thalassemia?\n* Does participation in a 12-week weight bearing exercise intervention change muscle function (assessed by hand grip strength, sit to stand and vertical jump) and endurance (assessed by the 6 minute walk test) in adolescents and adults with Thalassemia?\n* Does participation in a 36 week weight bearing exercise intervention (30 min\u002Fday; 5x\u002Fweek) change bone mineral density as assessed by DXA in adolescents and adults with Thalassemia?\n\nResearchers will compare participants' change in body composition, muscle mass, and muscle function during a \"Usual Activity\" period (12 weeks) with an exercise intervention (Period 1: 12 weeks) to see if exercise can improve body composition and muscle function.\n\nThe intervention will then be extended an additional 24 weeks for a total of 36 weeks of exercise (Period 2) to explore the change in bone mineral density between between \"Usual Activity\" and \"Exercise Intervention\" (Period 2) in individuals with Thalassemia.\n\nDuring the intervention period, participants will engage in a self-directed exercise regime of either weight bearing aerobic exercise or strength training exercises (30 min\u002Fday; 5x\u002Fweek).",[34],[304,305,306,307],"Exercise","Body composition","Bone","Muscle function","2025-07-07",{"date":310,"type":40},"2025-07-15",{"date":312,"type":40},"2024-12-01",{"date":314,"type":19},"2026-06-30",{"name":316,"class":77},"University of California, San Francisco",2,{"id":319,"slug":320,"hasResults":11,"nctId":321,"briefTitle":322,"officialTitle":322,"acronym":323,"eligibilityCriteria":324,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":211,"enrollmentInfo":325,"targetDuration":327,"studyType":20,"phases":4,"briefSummary":328,"conditions":329,"keywords":339,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":346,"lastUpdatePostDateStruct":347,"startDateStruct":349,"completionDateStruct":351,"leadSponsor":353,"locationsCount":100},"100535343","european-rare-blood-disorders-platform-enrol-100535343","NCT06250595","European Rare Blood Disorders Platform (ENROL)","ENROL","Inclusion Criteria:\n\n* Patients must meet all of the following criteria to be included in the ENROL Registry\n* Age from 0-100, both female and male\n* Diagnosed as RHDs according to ORPHANET classification\n* Able and willing to provide written informed consent (patient or legal representative for minors) if needed according to national legislation.\n\nExclusion Criteria:\n\n* Patients diagnosed as traits or trait conditions for other recessive RHDs",{"count":326,"type":19},37090,"15 Years","ENROL, the European Rare Blood Disorders Platform has been conceived in the core of ERN-EuroBloodNet as an umbrella for both new and already existing registries on Rare Hematological Diseases (RHDs). ENROL aims at avoiding fragmentation of data by promoting the standards for patient registries' interoperability released by the EU RD platform.\n\nENROL's principle is to maximize public benefit from data on RHDs opened up through the platform with the only restriction needed to guarantee patient rights and confidentiality, in agreement with EU regulations for cross-border sharing of personal data.\n\nAccordingly, ENROL will map the EU-level demographics, survival rates, diagnosis methods, genetic information, main clinical manifestations, and treatments in order to obtain epidemiological figures and identify trial cohorts for basic and clinical research. To this aim, ENROL will connect and facilitate the upgrading of existing RHD registries, while promoting the building of new ones when \u002F where lacking. Target-driven actions will be carried out in collaboration with EURORDIS for educating patients and families about the benefits of enrolment in such registries, including different cultural and linguistic strategies.\n\nThe standardized collection and monitoring of disease-specific healthcare outcomes through the ENROL user-friendly platform will determine how specialized care is delivered, where are the gaps in diagnosis, care, or treatment and where best to allocate financial, technical, or human resources.\n\nMoreover, it will allow for promoting research, especially for those issues that remain unanswered or sub-optimally addressed by the scientific community; furthermore, it will allow promoting clinical trials for new drugs. ENROL will enable the generation of evidence for better healthcare for RHD patients in the EU as the ultimate goal.\n\nENROL officially started on 1st June 2020 with a duration of 36 months. ENROL is co-funded by the Health Programme of the European Union under the call for proposals HP-PJ-2019 on Rare disease registries for the European Reference Networks. GA number 947670",[330,331,24,332,333,334,335,64,336,34,337,338],"Anemia","Bone Marrow Failure","Iron Metabolism Disorders","Myeloma","Lymphoid Neoplasm","Myeloma, Malignant","Anemia, Sickle Cell","Blood Cancer","Red Cell Membrane and Enzyme Abnormalities",[330,331,340,341,342,343,344,64,345,34,35],"Bleeding disorder","Iron metabolism disorder","Myeloid","Lymphoid","Blood cancer","Red Cell membrane and Enzyme Abnormalities","2024-02-06",{"date":348,"type":40},"2024-02-09",{"date":350,"type":40},"2022-07-01",{"date":352,"type":19},"2037-07",{"name":354,"class":77},"Hospital Universitari Vall d'Hebron Research Institute",{"id":356,"slug":357,"hasResults":11,"nctId":358,"briefTitle":359,"officialTitle":360,"acronym":361,"eligibilityCriteria":362,"healthyVolunteers":11,"sex":16,"minAge":363,"maxAge":211,"enrollmentInfo":364,"targetDuration":327,"studyType":20,"phases":4,"briefSummary":366,"conditions":367,"keywords":374,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":382,"lastUpdatePostDateStruct":383,"startDateStruct":385,"completionDateStruct":387,"leadSponsor":389,"locationsCount":100},"100532484","radeep-multicenter-european-epidemiological-platform-for-patients-diagnosed-with-rare-anemia-disorders-rads-100532484","NCT06213402","RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs)","A Retrospective\u002FProspective, Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) With Clinical Significance.","RADeep","Inclusion Criteria:\n\n* Patients must meet all of the following criteria to be included in the RADeep Registry\n* Age from 0-100, both female and male\n* Diagnosed as RADs (SCD, THAL, PKD, and other RADs THAL according to ORPHANET classification)\n* Able and willing to provide written informed consent (patient or legal representative for minors)\n\nExclusion Criteria:\n\n* Patient or legal representative for minors unwilling or unable to give consent\n* Patients diagnosed with SCD or THAL (alpha-thalassaemia and beta-thalassaemia) traits or trait conditions for other recessive RADs","0 Years",{"count":365,"type":19},32564,"Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation. Different medical entities classified as RADs by ORPHA classification are most of them chronic life threating disorders with many unmet needs for their proper clinical management creating an impact on European health systems. RADs present diagnostic challenges and their appropriate management requires from specialised multidisciplinary teams in Centers of expertise.\n\nAlthough there are some examples of well-established national registries on RADs in EU, the lack of recommendations for Rare disease registries implementation and the lack of standards for interoperability has led to the fragmentation or unavailability of data on prevalence, survival, main clinical manifestations or treatments in most of the European countries.",[35,34,368,369,370,371,372,332,373],"Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder","Anemia Due to Membrane Defect","CDA","Sideroblastic Anemia","Constitutional Aplastic Anemia","Hereditary Anemia",[35,34,375,376,377,378,218,191,379,380,381],"Red Blood Cell","Rare Hematological Disease","Rare Anemia Disorders","Sickle Cell Disease and Related Diseases","Alpha-Thalassemia","Sickel Cell Anemia","Pyruvate Kinase Deficiency","2024-01-09",{"date":384,"type":40},"2024-01-19",{"date":386,"type":40},"2021-11-30",{"date":388,"type":19},"2036-11",{"name":354,"class":77},{"id":391,"slug":392,"hasResults":11,"nctId":393,"briefTitle":394,"officialTitle":395,"acronym":4,"eligibilityCriteria":396,"healthyVolunteers":397,"sex":398,"minAge":55,"maxAge":4,"enrollmentInfo":399,"targetDuration":4,"studyType":59,"phases":401,"briefSummary":402,"conditions":403,"keywords":4,"overallStatus":68,"whyStopped":4,"lastUpdateSubmitDate":405,"lastUpdatePostDateStruct":406,"startDateStruct":408,"completionDateStruct":410,"leadSponsor":412,"locationsCount":4},"100386310","effect-of-folic-acid-supplementation-in-pregnant-women-having-thalassaemia-trait-100386310","NCT04310059","Effect of Folic Acid Supplementation in Pregnant Women Having Thalassaemia Trait","A Randomized Controlled Trial to Study the Effect of Folic Acid Supplementation in Pregnant Women Having Thalassaemia Trait","Inclusion Criteria:\n\n* Singleton pregnancy\n* Alpha thalassaemia trait\n* Beta thalassaemia trait\n\nExclusion Criteria:\n\n* Women taking over 0.6mg folic acid daily for 3 months or more prior to and during pregnancy\n* Gestational age \\> 16 weeks at first antenatal visit\n* Women age =\\\u003C 18 years old\n* Booking BMI =\\\u003C 18 or \\>= 35\n* Serum ferritin level \\\u003C 30ug\u002FL or 68 pmol\u002FL\n* Concomitant alpha and beta thalassaemia\n* Hb H disease\n* Beta thalassaemia major\n* Beta thalassaemia intermediate\n* Thalassaemia other than alpha or beta type\n* Women on long term medications\n* Women with risk factors for NTD\n* Women with known epilepsy\n* Women with bariatric surgery or malabsorption diseases\n* Women with known MTHFR polymorphism\n* Vegetarian",true,"FEMALE",{"count":400,"type":19},270,[88],"Folic acid supplementation has been recommended for prevention of neural tube defects in pregnancy when taken periconceptionally up to 12 weeks of gestation. A daily dose of 0.4mg has been endorsed by World Health Organisation to achieve a Red blood cell (RBC) folate level of 906nmol\u002FL (400ng\u002FmL) for reduction of neural tube defect. Hong Kong has no policy on food fortification. Research data conducted in countries with food fortification may not be applicable. It is therefore essential to study the baseline folate status in pregnant women locally.\n\nFor pregnant women with thalassaemia, they are believed to have a higher risk of folate deficiency because of an increased rate of erythropoiesis and chronic haemolysis. However, information on folate level of thalassaemia trait in pregnancy is scanty. Unmetabolized folic acid has been detected in maternal and fetal blood when daily dosage greater than 0.8-1mg was taken. In term of the dosage and duration of folic acid supplementation after 12 weeks of gestation, the practice varies widely among public hospitals and Maternity \\& Child Health Care centres. It is therefore essential to study the optimal dosage of folic acid supplementation in women with thalassaemia.",[34,404],"Folic Acid Deficiency Anemia","2023-11-27",{"date":407,"type":40},"2023-11-29",{"date":409,"type":19},"2024-07-01",{"date":411,"type":19},"2026-07-31",{"name":413,"class":77},"The University of Hong Kong"]