[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100372736":3},{"organization":4,"outcomesModule":7,"designInfo":21,"detailedDescription":24,"studyPopulation":25,"armGroups":26,"interventions":22,"overallOfficials":29,"centralContacts":33,"locations":42,"responsibleParty":63,"collaborators":22,"id":67,"slug":22,"hasResults":68,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":74,"sex":75,"minAge":22,"maxAge":22,"enrollmentInfo":76,"targetDuration":79,"studyType":80,"phases":22,"briefSummary":81,"conditions":82,"keywords":84,"overallStatus":45,"whyStopped":22,"lastUpdateSubmitDate":89,"lastUpdatePostDateStruct":90,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":98},{"fullName":5,"class":6},"Istituto Ortopedico Rizzoli","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":13,"otherOutcomes":17},[9],{"measure":10,"description":11,"timeFrame":12},"Natural History and Epidemiology in terms of clinical, genetic and functional evaluation","To maintain an established registry in order to assess epidemiology and natural history.\n\nCollection of:\n\n1. physical examinations data: assessment of severity of the disease (according to Mordenti et al classification)\n2. orthopedic and functional data: stature (cm), weight (kg), number and localization of sites affected, site of malignant transformation, definition of deformities (localization and number), definition of limitations (localization and number)\n3. surgical procedures: type, number and site of surgeries disease-related and age at surgeries\n4. genetics background: target gene, type of mutation, type of variant detected, clinical significance\n5. family history: inheritance\n6. treatment information: pharmacological, devices, supplements, and other treatments\n\nAll the features are updated at each follow up. Clinical reports, medical charts, genetic report and imaging are the primary sources of data","25 years",[14],{"measure":15,"description":16,"timeFrame":12},"Genotype-Phenotype Correlation among clinical features and molecular background","The secondary outcome comprises the correlation between genotype and phenotype. This includes but is not limited to clinical features and genetic background. This will be pursued using the information collected during visits and follow-ups and the genetic information resulting from molecular investigations.",[18],{"measure":19,"description":20,"timeFrame":12},"Longitudinal study of disease evolution (including prospective and retrospective data)","This outcome aims to investigate the evolution of Multiple Osteochondromas during time. This will be evaluated within the families and among the families.\n\nMain clinical features, such as height (cm), number and localization of osteochondromas, number and localization of deformities, number and localization of limitations will be collected both retrospectively and prospectively in the entire population, with a particular attention to the pediatric population. Primarily in adult population, disease evolution is focused on malignant transformation. An evaluation of these parameters will be performed at each visit to keep track on the progression of clinical manifestations.",{"allocation":22,"interventionModel":22,"interventionModelDescription":22,"primaryPurpose":22,"observationalModel":23,"timePerspective":6,"maskingInfo":22},null,"COHORT","The traditional method of collecting patient information is often chaotic, inconvenient, and sometimes even unsafe, particularly when dealing with rare diseases. In 2013, the need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, led to the suggestion of implementing the Registry of Multiple Osteochondromas (REM).\n\nThe REM relies on an IT platform named Genotype-phenotype Data Integration platform - GeDI. This solution was developed through a collaboration between Rare Skeletal Disease Department and a local software company (Dilaxia S.p.A.) and is General Data Protection Regulation (GDPR)-compliant, multi-client and web-accessible. It has been designed according to current medical informatics standards, including the Orphanet code, the International Classification of Diseases (ICD), and the Human Genome Variants Society, aiming to follow Findability, Accessibility, Interoperability, Reusability (FAIR) principles. GeDI is continuously being implemented to improve the management of people with Multiple Osteochondromas and to assist researchers in analyzing the information collected. REM is divided into the following main sections:\n\n* Personal data: it comprises general information, birth details and residence data;\n* Patient data: including the patients internal code, the hospital code and other patient details;\n* Diagnostic Process: the diagnosis, the status (affected, suspected, etc.), age at diagnosis, comorbidities, allergies, etc.;\n* Genogram: a tool for designing the family transmission of the disease, alongside information on the disease status of all relatives included;\n* Clinical events: it records a long list of signs and symptoms of Multiple Osteochondromas as well as several additional items to describe the disease\n* Genetic Analysis and Alteration: including analytical technique, sample information, analysis duration, etc. This section also comprises detailed information on any detected pathological variants (e.g. gene, international reference, DNA change, protein change, genomic position, etc.);\n* Visits: this section includes visit type (genetic, orthopedic, rehabilitation, pediatric, etc.), the date of the visit, prescriptions, imaging, etc.;\n* Treatments: this section comprises information of a wide range of treatments including pharmacological, devices, supplements, and other treatments such as psychological, nutritional, etc;\n* Surgeries: this section contains information on the type of surgeries, the age of the patients, the site\u002Flocalization of the procedures, etc.\n* Documents: this repository allow us to store all types of documents (radiological reports, imaging, consents, clinical reports, etc.);\n* Consents: this section provides a comprehensive overview of all consents collected, including the collection date;\n* Samples: this section includes information on the samples, like the type, date of collection, etc.\n* PROs: this section collects information on patients reported outcomes such as the quality of life or ABC scale.","Patients affected by Multiple Osteochondromas. The Registry will include also data on fetuses (prenatal).",[27],{"label":28,"type":22,"description":25,"interventionNames":22},"Multiple Osteochondromas patients",[30],{"name":31,"affiliation":5,"role":32},"Luca Sangiorgi, MD, PhD, MS","PRINCIPAL_INVESTIGATOR",[34,39],{"name":35,"role":36,"phone":37,"phoneExt":22,"email":38},"Marina Mordenti, PhD","CONTACT","+39 05 6366062","registri.malattierare@ior.it",{"name":40,"role":36,"phone":41,"phoneExt":22,"email":38},"Marcella Lanza, MSc","+39 05 6366169",[43],{"facility":44,"status":45,"city":46,"state":47,"zip":48,"country":49,"countryCode":50,"cosmosGeoPoint":51,"geoPoint":56,"contacts":57},"Irccs Istituto Ortopedico Rizzoli","RECRUITING","Bologna","Emilia-Romagna","40136","Italy","IT",{"type":52,"coordinates":53},"Point",[54,55],11.33875,44.49381,{"lat":55,"lon":54},[58,60],{"name":35,"role":36,"phone":59,"phoneExt":22,"email":38},"+39 051 6366062",{"name":61,"role":36,"phone":62,"phoneExt":22,"email":38},"Marcella Lanza, PhD","+39 051 6366169",{"type":64,"investigatorFullName":65,"investigatorTitle":66,"investigatorAffiliation":5,"oldNameTitle":22,"oldOrganization":22},"SPONSOR_INVESTIGATOR","Luca Sangiorgi","Head of Department of Rare Skeletal Disorders","100372736",false,"NCT04133285","Registry of Multiple Osteochondromas","Registry of Multiple Osteochondromas That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available.","REM","Inclusion Criteria:\n\n* All Multiple Osteochondromas patients, including prenatal diagnosis of Multiple Osteochondromas\n\nExclusion Criteria:\n\n* Any condition unrelated to Multiple Osteochondromas",true,"ALL",{"count":77,"type":78},10000,"ESTIMATED","25 Years","OBSERVATIONAL","REM is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc.\n\nThis approach has been developed to corroborate and integrate data from different sources evaluating several aspects of diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate disease pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.",[83],"Multiple Osteochondromas",[85,86,87,88],"Disease Registry","Natural History Study","Disease evolution","Genotype-Phenotype Correlation","2025-11-17",{"date":91,"type":92},"2025-11-20","ACTUAL",{"date":94,"type":92},"2013-06-28",{"date":96,"type":78},"2032-12",{"name":65,"class":6},1]