[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mastocytosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mastocytosis":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,43,96,125,161,185,210],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":30,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":4,"leadSponsor":39,"locationsCount":42},"100061328","study-of-factors-regulating-mast-cell-proliferation-100061328",false,"NCT00044122","Study of Factors Regulating Mast Cell Proliferation","Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells","* PATIENT PARTICIPANT INCLUSION CRITERIA:\n\nParticipants with mastocytosis zero to 80 years of age may participate in telehealth visits, and two to 80 years of age may participate on-site at NIH Clinical Center.\n\nHistologic evidence of increased mast cell number by bone marrow and\u002For skin biopsy or documentation of mastocytosis in the skin\n\nsupported with a photograph of diagnostic skin lesions\n\nMust be under the care of a primary care physician to be enrolled.\n\nAbility to provide informed consent.\n\nPATIENT PARTICIPANT EXCLUSION CRITERIA:\n\nAnemia with hemoglobin less than 8 g\u002FdL, hematocrit less than 24.\n\nAny condition that in the opinion of the investigator contraindicates participation in this study.\n\nRELATIVE INCLUSION CRITERIA:\n\nTwo to 80 years of age.\n\nA biological relative without the diagnosis of mastocytosis by skin examination or histologic evidence in a skin or bone marrow biopsy\n\nParticipant has a primary medical care provider outside the NIH\n\nAbility to provide informed consent.\n\nRELATIVE EXCLUSION CRITERIA:\n\nAny condition that in the opinion of the investigator contraindicates participation in this study.",true,"ALL","1 Day","80 Years",{"count":21,"type":22},600,"ESTIMATED","OBSERVATIONAL","This study will examine growth factors that promote and inhibit mast cell proliferation resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain.\n\nPatients up to 80 years of age with mastocytosis may be eligible for this 1-day study. Participants will have one visit at NIH lasting up to 8 hours, during which they will undergo the following tests and procedures:\n\n* Medical history and physical examination.\n* Laboratory studies, if medically indicated.\n* Blood tests to identify genetic changes important in the growth, development, and functioning of mast cells.\n* Bone marrow aspiration and biopsy.\n\nFor the bone marrow procedure, the skin over the hipbone and the outer surface of the bone itself are numbed with local anesthesia. Then, a special needle is inserted into the hipbone and about 1 tablespoon of bone marrow is drawn into a syringe. Another needle is inserted into the same area to collect a small piece of the bone marrow. Additional procedures may include allergen testing, urinalysis, and 24-hour urine collection.\n\nParticipants will receive an evaluation of their mastocytosis.\n\n...",[26,27,28,29],"Mastocytosis","Monoclonal","Bone Marrow","Tryptase",[26,31],"Natural History","RECRUITING","2026-06-27",{"date":35,"type":36},"2026-06-30","ACTUAL",{"date":38,"type":36},"2002-09-18",{"name":40,"class":41},"National Institute of Allergy and Infectious Diseases (NIAID)","NIH",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":50,"targetDuration":52,"studyType":23,"phases":4,"briefSummary":53,"conditions":54,"keywords":80,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":86,"lastUpdatePostDateStruct":87,"startDateStruct":89,"completionDateStruct":91,"leadSponsor":93,"locationsCount":42},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":51,"type":22},380,"10 Years","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,26,73,74,75,76,77,78,79],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[81,82,83,58,84,85,61,62,63,64,65,66,67,68,69,70,71,72,26,73,74,75,76,77,79],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":88,"type":36},"2026-01-14",{"date":90,"type":36},"2024-07-01",{"date":92,"type":22},"2034-12-31",{"name":94,"class":95},"Hospital Italiano de Buenos Aires","OTHER",{"id":97,"slug":98,"hasResults":11,"nctId":99,"briefTitle":100,"officialTitle":100,"acronym":101,"eligibilityCriteria":102,"healthyVolunteers":16,"sex":17,"minAge":103,"maxAge":4,"enrollmentInfo":104,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":106,"conditions":107,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":116,"lastUpdatePostDateStruct":117,"startDateStruct":119,"completionDateStruct":121,"leadSponsor":123,"locationsCount":42},"100618173","analysis-of-the-role-of-ige-proteoforms-in-health-and-disease-100618173","NCT07328178","Analysis of the Role of IgE Proteoforms in Health and Disease","IgE-PhD","Inclusion Criteria:\n\n* CSU and type I allergic diseases (including anaphylaxis and desensitization), atopic dermatitis, mastocytosis, XLA and HaT (informed consent, age: any available adult subject, gender: any available subject, clinical phenotype and specific information about the allergy (e.g. severity, medication, medical history, laboratory testing)\n* Healthy controls (informed consent, age matched to the allergic patients, gender matched to the allergic patients, patient-reported symptoms related to allergy to aeroallergens, food, drugs, hymenoptera venom, CSU)\n\nExclusion Criteria:\n\n* Absence of informed consent\n* Age \\\u003C 18 years old","18 Years",{"count":105,"type":22},200,"The goal of this observational study is to evaluate the role of IgE proteoforms in healthy volunteers and in patients with type I allergy, patients with chronic spontaneous urticaria, patients with a recent history of anaphylaxis, patients with mastocytosis, patients with hereditary alpha tryptasemia, patients with X-linked agammaglobulinemia (XLA), and patients undergoing desensitization for venom or medication allergy.",[108,26,109,110,111,112,113,114,115],"Anaphylaxis","X-linked Agammaglobulinaemia","Venom Allergy","Chronic Spontaneous Urticaria (CSU)","Type I Allergy","Medication Allergy","Healthy Control","Hereditary Alpha-Tryptasemia","2025-12-26",{"date":118,"type":36},"2026-01-09",{"date":120,"type":36},"2025-01-01",{"date":122,"type":22},"2029-01-01",{"name":124,"class":95},"KU Leuven",{"id":126,"slug":127,"hasResults":11,"nctId":128,"briefTitle":129,"officialTitle":130,"acronym":4,"eligibilityCriteria":131,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":132,"targetDuration":52,"studyType":23,"phases":4,"briefSummary":134,"conditions":135,"keywords":145,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":152,"lastUpdatePostDateStruct":153,"startDateStruct":155,"completionDateStruct":157,"leadSponsor":159,"locationsCount":42},"100267393","myeloproliferative-neoplasms-mpns-patient-registry-100267393","NCT02760238","Myeloproliferative Neoplasms (MPNs) Patient Registry","Clinical and Molecular Epidemiology of Myeloproliferative Neoplasms (MPNs)","Inclusion Criteria:\n\nDiagnosis of one of the following myeloproliferative neoplasms (MPNs):\n\n* Atypical CML (aCML)\n* Chronic eosinophilic leukemia-not otherwise specified (CEL, NOS),\n* Chronic myelomonocytic leukemia (CMML)\n* Chronic neutrophilic leukemia (CNL),\n* Essential thrombocythemia (ET),\n* Juvenile myelomonocytic leukemia (JMML),\n* Mastocytosis, MPN unclassifiable\n* MPN\u002FMDS unclassifiable,\n* Primary myelofibrosis (PMF),\n* Post-essential thrombocythemia myelofibrosis (post-ET MF),\n* Post-polycythemia vera MF (post-PV MF)\n* Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T)\n\nExclusion Criteria:\n\n* None",{"count":133,"type":22},5000,"The mandate of this MPN registry is to collect clinical information, including molecular results, from consenting patients with a variety of MPNs at different time points during the course of their disease.",[136,137,138,26,139,140,141,142,143,144],"Primary Myelofibrosis","Polycythemia Vera","Essential Thrombocythemia","Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative","Leukemia, Myelomonocytic, Juvenile","Chronic Eosinophilic Leukemia-not Otherwise Specified","Myelodysplastic-Myeloproliferative Diseases","Neoplasms","Leukemia, Myelomonocytic, Chronic",[146,147,148,149,150,151,143],"myeloproliferative neoplasm","myelodysplastic syndrome","registry","leukemia","Bone Marrow Diseases","Hematologic Diseases","2024-08-26",{"date":154,"type":36},"2024-08-27",{"date":156,"type":4},"2015-04",{"date":158,"type":22},"2027-10-31",{"name":160,"class":95},"University Health Network, Toronto",{"id":162,"slug":163,"hasResults":11,"nctId":164,"briefTitle":165,"officialTitle":166,"acronym":167,"eligibilityCriteria":168,"healthyVolunteers":16,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":169,"targetDuration":52,"studyType":23,"phases":4,"briefSummary":171,"conditions":172,"keywords":174,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":176,"lastUpdatePostDateStruct":177,"startDateStruct":179,"completionDateStruct":181,"leadSponsor":183,"locationsCount":42},"100551961","mastocytosis-registry-of-zurich-100551961","NCT06466889","Mastocytosis Registry (of Zurich)","Genetic, Multiomic and Cytokine-based Mapping of Patients With Mastocytosis\u002FHypertryptasemia at the University Hospital of Zurich German: Mastozytose-Register: Datenerfassung Und Weiterverwendung Von Biologischem Material Von Patienten Mit Mastozytose, Welche am Universitätsspital Zürich Behandelt Werden","MastoR","Inclusion Criteria:\n\n* Adult patients with mastocytsis\u002Fhypertryptasemia which are treated at the university hospital of Zurich\n* available informed consent\n\nExclusion Criteria:\n\n* denied consent",{"count":170,"type":22},400,"The study aims to summarize patients with mastocytosis and hypertryptasämia (without underlying mastocytosis or no bone marrow biopsy) in relation to demographic information, clinical progress and treatment courses. Biologic samples are collected from available routine diagnostics (serum, skin tissue, gut mucosa, bone marrow, and others) for further use in experimental research.",[26,173],"Hypertryptasemia",[175],"mast cell disease","2024-06-24",{"date":178,"type":36},"2024-06-26",{"date":180,"type":36},"2024-06-06",{"date":182,"type":22},"2035-12-31",{"name":184,"class":95},"University of Zurich",{"id":186,"slug":187,"hasResults":11,"nctId":188,"briefTitle":189,"officialTitle":190,"acronym":4,"eligibilityCriteria":191,"healthyVolunteers":16,"sex":17,"minAge":103,"maxAge":4,"enrollmentInfo":192,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":194,"conditions":195,"keywords":197,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":201,"lastUpdatePostDateStruct":202,"startDateStruct":204,"completionDateStruct":206,"leadSponsor":208,"locationsCount":42},"100549906","relationship-between-circulating-sclerostin-and-bone-lesions-in-patients-with-mastocytosis-100549906","NCT06440148","Relationship Between Circulating Sclerostin and Bone Lesions in Patients With Mastocytosis","Role of Sclerostin in Mastocytosis Bone Disease","Inclusion Criteria:\n\n* Age \\> 18 years\n* Mastocytosis defined according to WHO criteria\n* Known KIT mutation status\n\nExclusion Criteria:\n\n* History of organ transplant\n* Inability to give informed consent\n* Pregnancy, Breastfeeding\n* Vulnerable Patient, defined as: patient with another uncontrolled severe disease; patient under juridical protection",{"count":193,"type":22},50,"Mastocytosis is very rare and highly heterogeneous group of disorders, characterized by the accumulation of clonal mast cells which can infiltrate several organs and tissues.\n\nBones are the most frequent localization of systemic mastocytosis. The aim of our research was to explain the potential role of sclerostin in the pathogenesis of bone disease in mastocytosis.",[26,196],"Bones",[196,26,198,199,200],"Osteolysis","Osteosclerosis","Sclerostin","2024-05-28",{"date":203,"type":36},"2024-06-03",{"date":205,"type":36},"2019-09-01",{"date":207,"type":22},"2026-12-31",{"name":209,"class":95},"Medical University of Lublin",{"id":211,"slug":212,"hasResults":11,"nctId":213,"briefTitle":214,"officialTitle":215,"acronym":216,"eligibilityCriteria":217,"healthyVolunteers":11,"sex":17,"minAge":103,"maxAge":4,"enrollmentInfo":218,"targetDuration":4,"studyType":220,"phases":221,"briefSummary":223,"conditions":224,"keywords":225,"overallStatus":230,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":42},"100549326","study-of-cellular-heterogeneity-in-patients-with-mastocytosis-100549326","NCT06432556","Study of Cellular Heterogeneity in Patients With Mastocytosis","Study of Cellular Heterogeneity in Patients With Mastocytosis (MastCellHet) Mastocytosis Cell Heterogeneity","MastCellHet","Inclusion Criteria:\n\n* Criteria related to the study population:\n* Subject affiliated with a social security or insurance scheme\n* Subject who has given written consent to his participation in the study\n* Criteria related to the studied pathology:\n* Subject diagnosed with isolated cutaneous or indolent systemic mastocytosis with associated skin involvement defined according to World Health Organization criteria (and\u002For international criteria for cutaneous mastocytosis)\n* Subjects whose KIT mutation status is known in the skin, bone marrow, and blood\n\nExclusion Criteria:\n\n* Criteria related to the study population:\n* Sun exposure of the biopsied areas expected within the 4 weeks preceding\n* Subjects who have had exposure to sunlight or artificial UV radiation within the 2 weeks preceding inclusion at the biopsied areas\n* Adult patients under legal protection, guardianship, or curatorship\n* Pregnant or lactating women\n* Criteria related to the studied pathology:\n* Subjects with an advanced version of the pathology or advanced systemic mastocytosis (SAMA)\n* Subjects with a known history of allergy or intolerance to local anesthetics\n* Subjects who have previously shown abnormalities in skin healing or any other contraindication to skin biopsy\n* Subjects with recognized addiction to alcoholism or drug abuse\n* Subjects with a hereditary or acquired disorder of hemostasis\n* Subjects with a severe or acute chronic condition judged by the investigator as incompatible with the trial\n* Subjects presenting a clinically incompatible immune deficiency with the study\n* Patients without a well-established diagnosis of mastocytosis\n* Patients included in a therapeutic study for indolent systemic mastocytosis\n* Treatment-related criteria:\n* Any topical or systemic treatment for atopic dermatitis (including phototherapy) ongoing or stopped at least 14 days before the inclusion visit\n* Systemic corticosteroids within the 4 weeks preceding the inclusion visit\n* Ongoing systemic treatment likely to interfere with the healing process\n* Subjects who have undergone physical treatment (radiotherapy, etc.) on the biopsy area in the past 6 months\n* History of treatment or concomitant treatment that may interfere with the conduct of the study as determined by the investigator",{"count":219,"type":22},26,"INTERVENTIONAL",[222],"NA","This study will aim to study the heterogeneity of skin-resident mast cells and of blood circulating hematopoietic progenitors in patients suffering from isolated Cutaneous Mastocytosis and from systemic Mastocytosis with skin lesions.",[26],[26,226,227,228,229],"Mast cells","Cellular heterogeneity","CD 45+","CD 34+","NOT_YET_RECRUITING","2024-05-21",{"date":233,"type":36},"2024-05-29",{"date":235,"type":22},"2024-06-01",{"date":237,"type":22},"2026-06-15",{"name":239,"class":95},"University Hospital, Toulouse"]