[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-dyserythropoietic-anemia-cda\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-dyserythropoietic-anemia-cda":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,38,66],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":26,"lastUpdatePostDateStruct":27,"startDateStruct":30,"completionDateStruct":32,"leadSponsor":34,"locationsCount":37},"100283048","the-congenital-dyserythropoietic-anemia-registry-cdar-100283048",false,"NCT02964494","The Congenital Dyserythropoietic Anemia Registry (CDAR)","Inclusion Criteria:\n\n* Diagnosis of Congenital Dyserythropoietic Anemia (CDA), whether a genetic mutation is identified or not\n* Evidence of congenital anemia\u002Fjaundice or a positive family history\n* Evidence of ineffective erythropoiesis\n* Typical morphological appearance of bone marrow erythroblasts\n* All ages (ages 0-99)\n\nExclusion Criteria:\n\n* Diagnosis of cancer\n* Myelodysplasia\n* Secondary dyserythropoiesis: e.g.; vitamin B12 deficiency or drug-related.\n\nNote1: Patients with rare band 3 (SLC4A1) mutations recently described to be associated with dyserythropoiesis will be eligible since the mechanisms appear to involve direct participation of band 3 in the erythroblast mitosis and cytokinesis.\n\nNote2: Siblings, parents, and family members of patients with confirmed CDA diagnosis are encouraged to participate in the study.",true,"ALL",{"count":18,"type":19},10000,"ESTIMATED","15 Years","OBSERVATIONAL","The investigators have created and maintain a comprehensive registry for patients with the diagnosis of Congenital Dyserythropoietic Anemia (CDA) in North America. The goal of this registry is to collect long-term confidential data on patients with CDA in the US, Canada, and Mexico and maintain a bio-repository of de-identified patient blood and bone marrow specimens as a tool for the investigation of epidemiology, natural history, biology, and molecular pathogenetic mechanisms of CDA.",[24],"Congenital Dyserythropoietic Anemia (CDA)","RECRUITING","2026-06-15",{"date":28,"type":29},"2026-06-16","ACTUAL",{"date":31,"type":29},"2016-08-29",{"date":33,"type":19},"2031-01",{"name":35,"class":36},"Children's Hospital Medical Center, Cincinnati","OTHER",1,{"id":39,"slug":40,"hasResults":11,"nctId":41,"briefTitle":42,"officialTitle":43,"acronym":4,"eligibilityCriteria":44,"healthyVolunteers":11,"sex":16,"minAge":45,"maxAge":4,"enrollmentInfo":46,"targetDuration":4,"studyType":48,"phases":49,"briefSummary":52,"conditions":53,"keywords":54,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":57,"lastUpdatePostDateStruct":58,"startDateStruct":60,"completionDateStruct":62,"leadSponsor":64,"locationsCount":37},"100629195","phase-1-zoledronic-acid-treatment-in-patients-with-congenital-dyserythropoietic-anemia-100629195","NCT07471516","Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia","Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia: An Exploratory Study","Inclusion Criteria:\n\n* Age ≥ 18 years, regardless of gender.\n* Diagnosis of Congenital Dyserythropoietic Anemia (CDA) based on clinical presentation, laboratory tests, and family investigation, with the presence of RBM28 mutation and\u002For increased vacuolization within nucleated red blood cells under light microscopy of bone marrow.\n* Presence of anemia (Hemoglobin \\\u003C 100 g\u002FL at screening) or transfusion dependence (defined as an average transfusion interval of \\\u003C 8 weeks within the past 3 months).\n* Performance status is acceptable (ECOG score 0-2).\n* Normal renal function (estimated glomerular filtration rate, eGFR ≥ 60 mL\u002Fmin\u002F1.73m²).\n* Serum calcium levels within the normal range.\n* Female patients of childbearing potential must have a negative pregnancy test before enrollment and agree to use effective contraception during the study and for 3 months after completion.\n* The patient and\u002For guardian voluntarily sign the informed consent form.\n\nExclusion Criteria:\n\n* Known hypersensitivity to bisphosphonates or any of their excipients.\n* Severe periodontal disease or a recent history (within 6 months) of osteonecrosis of the jaw.\n* Hypocalcemia.\n* Pregnant or lactating women.\n* Currently receiving other experimental drug treatments that may affect erythropoiesis (e.g., Luspatercept).\n* Active, uncontrolled systemic infection.\n* Severe cardiac, pulmonary, or hepatic dysfunction, as judged by the investigator to be unsuitable for participation in the study","18 Years",{"count":47,"type":19},2,"INTERVENTIONAL",[50,51],"PHASE1","PHASE2","Background:\n\nCongenital Dyserythropoietic Anemia (CDA) is a group of rare hereditary blood disorders characterized by ineffective erythropoiesis, leading to chronic anemia and organ damage. Current treatment options are very limited, mainly relying on regular blood transfusions, which can cause severe complications over time. Our laboratory research and animal models suggest that Zoledronic acid, a medication commonly used for bone health, may improve ineffective erythropoiesis.\n\nPurpose:\n\nThe purpose of this exploratory study is to evaluate the efficacy and safety of Zoledronic acid in adult patients with CDA who do not have other effective treatment options. The primary goal is to see if this treatment can increase hemoglobin levels and reduce the need for blood transfusions.\n\nStudy Design:\n\nThis is a prospective, single-center, single-arm study. Participants will receive an initial intravenous dose (4 mg) of Zoledronic acid. After a 4-week observation period to ensure safety, participants will receive additional doses every 4 weeks for a total of 4 doses. Researchers will monitor hemoglobin levels, transfusion frequency, spleen size, and overall quality of life over a period of 12 to 24 weeks.",[24],[55,56],"Congenital Dyserythropoietic Anemia","Zoledronic Acid","2026-03-12",{"date":59,"type":29},"2026-03-13",{"date":61,"type":29},"2026-02-25",{"date":63,"type":19},"2027-08-12",{"name":65,"class":36},"Institute of Hematology & Blood Diseases Hospital, China",{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":74,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":76,"conditions":77,"keywords":86,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":101},"100608787","integrative-diagnosis-for-scd-and-other-rads-100608787","NCT07206095","Integrative Diagnosis for SCD and Other RADs","Integrative Diagnosis of Sickle Cell Disease (SCD) and Other Rare Anemia Disorders (RADs) for Personalized Medicine","INTEGRA","Inclusion Criteria:\n\n* Patients sustaining a confirmed or suspected diagnosis of an hereditary rare hemolytic anemia:\n* Sickle cell disease\n* Thalassemic syndromes\n* Congenital dyserythropoietic anemia\n* Enzymopathy\n* Unstable Hemoblogin \u002F Altered oxygen affinity\n* Hereditary stomatocytosis\n* Hereditary pyropoikilocytosis\n* Hereditary spherocytosis with severe anemia (\\\u003C8 g\u002FdL) or inconclusive diagnosis:\n* Patient with chronic hemolytic anemia and red cell smear compatible, but with:\n* EMA binding test: inconclusive or negative\n* Genetic testing: no definitive diagnosis (VUS or no findings)\n* Not transplanted or undergoing gene therapy at the time of inclusion. Patients with graft failure without a new transplant may be included.\n\nExclusion Criteria:\n\n* Carrier traits in autosomal recessive hereditary anemias",{"count":75,"type":19},200,"INTEGRA aims at enabling personalized medicine for RHADs patients by the establishment of an integrative diagnostic approach based on deep phenotypic and genetic characterization through combining new generation methodologies.",[78,79,24,80,81,82,83,84,85],"Sickle Cell Disease","Thalassaemia","Enzyme Disorder; Anemia","Spherocytosis, Hereditary","Stomatocytosis","Hemoglobin Disorder","Anemia Due to Membrane Defect","Rare Anemia Disorders",[87,88,89,90,91],"SICKLE CELL DISEASE","RARE ANEMIA DISORDERS","PERSONALIZED MEDICINE","DIAGNOSIS","EKTACYTOMETRY","2025-09-25",{"date":94,"type":29},"2025-10-03",{"date":96,"type":29},"2020-11-13",{"date":98,"type":19},"2028-05",{"name":100,"class":36},"Hospital Universitari Vall d'Hebron Research Institute",9]