[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rare-bone-disorders\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rare-bone-disorders":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,61],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":17,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":37,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":49,"lastUpdatePostDateStruct":50,"startDateStruct":53,"completionDateStruct":55,"leadSponsor":57,"locationsCount":60},"100644109","morphology-in-oral-rare-syndromes--artificial-intelligence-for-clinical-diagnosis-100644109",false,"NCT07666269","Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis","Geometric Morphometric Characterization of Oro-Dental Anomalies in Rare Bone and Cartilage Diseases From 3D Digital Data (MOSAIC)","MOSAIC","Inclusion Criteria:\n\n* For cases: Diagnosis of a rare bone and cartilage disorder confirmed by the Rare Disease Competence Center for Constitutional Bone Disorders (MOC) or Calcium and Phosphate Metabolism Disorders (CaP), genetically and\u002For clinically.\n* Ability to undergo a 3D intra-oral scan;\n* Ability of the participant to understand the information notice provided regarding the use of their medical data and 3D digital models for research purposes, and to express informed non-objection to participation in the research.\n* For controls: healthy adults recruited in the Dental Medicine Department.\n\nExclusion Criteria:\n\n* History of major orthodontic\u002Forthognathic treatment;\n* Craniofacial conditions unrelated to the studied diseases (e.g., cleft palate, non-target craniofacial syndromes);\n* Impossibility to obtain a 3D optical impression;\n* Refusal or inability of the participant to understand the information notice and\u002For to express informed non-objection to participation in the research.",true,"ALL","18 Years",{"count":21,"type":22},240,"ESTIMATED","INTERVENTIONAL",[25],"NA","MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through geometric morphometrics. The study will also evaluate whether these morphological signatures can train an artificial intelligence (AI) algorithm to classify syndromes. A prospective monocentric case-control cohort will be constituted, including 3D intra-oral scans and associated clinical data. The final goal is to improve diagnostic accuracy and reduce diagnostic delay in rare bone disorders.",[28,29,30,31,32,33,34,35,36],"Osteogenesis Imperfecta","Rare Bone Disorders","Hypophosphatemia","X-Linked","Mucopolysaccharidoses","Tooth Abnormalities","Palate; Deformity","Artificial Intelligence (AI)","Machine Learning",[38,39,40,41,42,43,44,45,46,47],"Rare bone diseases","palatal morphology","geometric morphometrics","3D intra-oral scan","machine learning","artificial intelligence","diagnostic classification","osteogenesis imperfecta","X-linked hypophosphatemia","mucopolysaccharidosis","NOT_YET_RECRUITING","2026-06-18",{"date":51,"type":52},"2026-06-24","ACTUAL",{"date":54,"type":22},"2026-09-01",{"date":56,"type":22},"2028-03-01",{"name":58,"class":59},"University Hospital, Bordeaux","OTHER",1,{"id":62,"slug":63,"hasResults":11,"nctId":64,"briefTitle":65,"officialTitle":66,"acronym":67,"eligibilityCriteria":68,"healthyVolunteers":11,"sex":18,"minAge":19,"maxAge":4,"enrollmentInfo":69,"targetDuration":4,"studyType":71,"phases":4,"briefSummary":72,"conditions":73,"keywords":4,"overallStatus":106,"whyStopped":4,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":110,"completionDateStruct":112,"leadSponsor":114,"locationsCount":60},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":70,"type":22},600,"OBSERVATIONAL","Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,29,104,105],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Tuberous Sclerosis","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Noonan Syndrome","Williams-Beuren Syndrome","RECRUITING","2023-09-04",{"date":109,"type":52},"2023-09-06",{"date":111,"type":52},"2018-10-01",{"date":113,"type":22},"2030-01-01",{"name":115,"class":59},"dr. Laura C. G. de Graaff-Herder"]