[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mazabraud-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mazabraud-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,46],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":28,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100636749","fibrous-dysplasia-an-epidemiological-and-correlational-evaluation-of-multimodal-data-100636749",false,"NCT07569731","Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data","Fibrous Dysplasia: An Epidemiological and Correlational Study of Anthropometric, Clinical, Treatment, and Genetic Data","FIBR DYSPLASIA","Inclusion Criteria:\n\n* All patients affected by Fibrous Dysplasia, McCune-Albright syndrome and Mazabraud syndrome (retrospectively included from 2009)\n* Availability of clinical and radiological data collected during their recovery at the IOR\n* Availability of tumor tissue in the biobank in sufficient quantity and quality\n\nExclusion Criteria:\n\n* Patients who do not meet the inclusion criteria","ALL",{"count":19,"type":20},200,"ESTIMATED","OBSERVATIONAL","Fibrous dysplasia is a benign, pseudotumoral, genetic but non-hereditary condition characterized by the presence of one or more areas of abnormal bone development in which the normal structure is replaced by fibrous tissue. It is an extremely heterogeneous condition, as it can be monostotic, polyostotic, or panostotic, or it may occur within the context of more complex syndromes such as McCune-Albright syndrome (in which polyostotic fibrous dysplasia is associated with café-au-lait spots and precocious puberty) or Mazabraud syndrome (in which intramuscular myxomas are present).\n\nThis condition is caused by post-zygotic missense mutations, so it is never hereditary, and the affected individual will constitute a so-called \"genetic mosaic,\" a fact that explains the wide variability in the localization of the pathological areas. The mutations in question occur in a gene (GNAS) located on chromosome 20 (20q13.2-13.3); this gene encodes a G protein with GTPase activity, the function of which is consequently impaired.\n\nThe aim of this study is to evaluate in detail the characteristics of the patients, their hospitalizations, and related interventions. Given the rarity of the condition, such investigations are often conducted on very limited datasets. The present study is expected to include over 200 patients, providing a comprehensive picture.\n\nAn additional aim is to assess the impact of somatic mutations in the GNAS gene and their impact in terms of clinical manifestations.",[24,25,26,27],"Fibrous Dysplasia","Fibrous Dysplasia of Bone","Fibrous Dysplasia\u002FMcCune-Albright Syndrome","Mazabraud Syndrome",[24,29,27,30,31,32],"McCune-Albright Syndrome","Surgical procedures","GNAS","Pain","RECRUITING","2026-05-07",{"date":36,"type":37},"2026-05-12","ACTUAL",{"date":39,"type":37},"2022-05-12",{"date":41,"type":20},"2026-06-30",{"name":43,"class":44},"Istituto Ortopedico Rizzoli","OTHER",1,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":52,"targetDuration":54,"studyType":21,"phases":4,"briefSummary":55,"conditions":56,"keywords":58,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":45},"100303552","fibrous-dysplasia-mccune-albright-syndrome-patient-registry-100303552","NCT03231644","Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry","Inclusion Criteria any one or more of the following:\n\n* clinical diagnosis of fibrous dysplasia\n* clinical diagnosis of McCune-Albright syndrome\n* clinical diagnosis of Mazabraud's syndrome",{"count":53,"type":20},600,"2 Years","The FD\u002FMAS Patient Registry is an IRB-approved research study that that invites the patients and families to help answer some of the biggest questions about FD\u002FMAS by completing questionnaires about their lives with FD or MAS.\n\nHave you enrolled in the FD\u002FMAS Patient Registry yet? Are you up-to-date on your surveys? Take a trip to www.fdmasregistry.org today to learn more about the project, enroll, complete your surveys, or make sure you aren't due to provide more info!\n\nThe FD\u002FMAS Patient Registry: Your story powers research.",[24,57,27],"McCune Albright Syndrome",[24,29,59,60],"Mazabrauds","FD\u002FMAS","2025-08-07",{"date":63,"type":37},"2025-08-12",{"date":65,"type":37},"2016-10-31",{"date":67,"type":20},"2028-10",{"name":69,"class":44},"Tovah Burstein"]