[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"erdheim-chester-disease-ecd\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:erdheim-chester-disease-ecd":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,38],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"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},"100627877","ecd-score-a-study-on-erdheim-chester-disease-100627877",false,"NCT07454343","ECD-Score: a Study on Erdheim-Chester Disease","Predicting Long-term Prognosis in Erdheim-Chester Disease: A New Comprehensive Approach","Inclusion Criteria:\n\n* informed consent signed by the patient or, for minors, by a parent or legal guardian\n* confirmed diagnosis of ECD according to the latest international guidelines (Goyal G, Blood 2020)\n* availability of clinical, molecular, treatment and response to therapy data\n* a minimum follow-up period of one year.\n\nExclusion Criteria:\n\n* lack of diagnostic or follow-up data\n* refusal or inability to sign the informed consent form","ALL","7 Years",{"count":19,"type":20},1000,"ESTIMATED","OBSERVATIONAL","Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that primarily affects adults but may also occur in pediatric patients. It is characterized by the accumulation of foamy histiocytes with a distinctive immunophenotype in multiple anatomical sites, most commonly the long bones, retroperitoneal and perirenal tissues, the heart, the central nervous system, and the pituitary gland. The disease shows marked clinical heterogeneity, ranging from localized and asymptomatic forms to severe manifestations with multiorgan involvement. From a pathogenetic perspective, ECD is mainly driven by gain-of-function mutations affecting the MAPK and PI3K-AKT pathways, particularly the BRAFV600E mutation, leading to aberrant activation of the MAPK and mTOR signaling pathways. The release of pro-inflammatory cytokines and chemokines plays a key role in systemic inflammation and tissue damage, resulting in significant complications and disability depending on the organs involved.\n\nDespite the significant efforts of international research in recent years, particularly given the extreme rarity of the disease (incidence below 5 cases per 10,000,000 adults per year), substantial knowledge gaps remain, especially with regard to the prediction of long-term outcomes, both in terms of survival and disability. Although some prognostic factors associated with survival have already been identified (such as central nervous system involvement), to date only limited-scale studies have systematically evaluated the prognosis of patients with ECD, focusing in particular on factors influencing organ-specific complications. Moreover, in clinical practice, several aspects that significantly affect patients' quality of life tend to be underestimated, partly due to the time required to perform comprehensive assessments using detailed questionnaires designed to quantify disease-related consequences, such as chronic disability, depression, and cognitive impairment. Nevertheless, there is a growing need for and interest in these parameters, commonly referred to as patient-reported outcomes. In light of these considerations, the development and implementation of a comprehensive prognostic score aimed at predicting survival and long-term disease outcomes could improve the overall assessment of patients and provide more accurate and clinically meaningful prognostic information.",[24],"Erdheim-Chester Disease (ECD)","RECRUITING","2026-03-02",{"date":28,"type":29},"2026-03-06","ACTUAL",{"date":31,"type":29},"2024-12-23",{"date":33,"type":20},"2028-12",{"name":35,"class":36},"Meyer Children's Hospital IRCCS","OTHER",7,{"id":39,"slug":40,"hasResults":11,"nctId":41,"briefTitle":42,"officialTitle":42,"acronym":43,"eligibilityCriteria":44,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":45,"targetDuration":47,"studyType":21,"phases":4,"briefSummary":48,"conditions":49,"keywords":4,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":68},"100231051","international-rare-histiocytic-disorders-registry-irhdr-100231051","NCT02285582","International Rare Histiocytic Disorders Registry (IRHDR)","IRHDR","Inclusion Criteria:\n\n1. Any age at diagnosis.\n2. Diagnosis of a rare histiocytic disorder, established before or after the opening of the registry.\n3. Cases diagnosed from January - 01- 1995 until the present time and prospectively.\n4. Signed informed consent by a patient, or parent\u002Flegal guardian.\n5. Cognitively impaired patients can be included after consent by legal guardian\u002Fparent.\n6. Deceased patients can be included if they are contacted at least 6 months after the death of their child and not on their child's birthday or anniversary of death.\n\nExclusion Criteria:\n\n1. Informed consent has not been signed.\n2. Diagnosis other than RHD.\n3. Cases diagnosed before the year 1995.",{"count":46,"type":20},400,"10 Years","The rare histiocytic disorders (RHDs) are characterized by the infiltration of one or more organs by non-LCH histiocytes. They can range from localized disease that resolves spontaneously, to progressive disseminated forms that can be sometimes life-threatening. Since they are extremely rare, there is limited understanding of their causes and best treatment options. Physicians, patients and parents of children with RHDs frequently consult members of the Histiocyte Society regarding the best management of these disorders. Very often, no specific recommendation can be made due to the lack of prospective outcome data, or even large retrospective case series. The creation of an international rare histiocytic disorders registry (IRHDR) could facilitate a uniform diagnosis of the RHDs, as well as the collection and analysis of the clinical, epidemiological, treatment and survival data of patients with RHD. The registry may also lead to future therapeutic recommendations, provide a framework for future clinical trials and create excellent research opportunities.",[50,24,51,52,53,54,55,56,57,58],"Rare Histiocytic Disorders (RHDs)","Rosai-Dorfman Disease (RDD)","Xanthogranuloma Family (XG)","Indeterminate Dendritic Cell Histiocytosis","Malignant Histiocytic Neoplasm (MHN)","ALK-positive Histiocytosis","Mixed Histiocytosis (MXH)","Multicentric Reticulohistiocytoma (MRH)","Necrobiotic Xanthogranuloma (NX)","2025-06-18",{"date":61,"type":29},"2025-06-24",{"date":63,"type":4},"2014-10",{"date":65,"type":20},"2028-09",{"name":67,"class":36},"The Hospital for Sick Children",15]