[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mucopolysaccharidoses\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mucopolysaccharidoses":32},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,61,158],{"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":4,"maxAge":4,"enrollmentInfo":69,"targetDuration":71,"studyType":72,"phases":4,"briefSummary":73,"conditions":74,"keywords":140,"overallStatus":147,"whyStopped":4,"lastUpdateSubmitDate":148,"lastUpdatePostDateStruct":149,"startDateStruct":151,"completionDateStruct":153,"leadSponsor":155,"locationsCount":157},"100289408","the-myelin-disorders-biorepository-project-100289408","NCT03047369","The Myelin Disorders Biorepository Project","The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network","MDBP","Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and\u002For provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent.",{"count":70,"type":22},12000,"10 Years","OBSERVATIONAL","The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.",[75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,32,139],"Leukodystrophy","White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD","ALD Gene Mutation","ALD (Adrenoleukodystrophy)","X-linked Adrenoleukodystrophy","X-ALD","Adrenomyeloneuropathy","Aicardi Goutieres Syndrome","AGS","Alexander Disease","Alexanders Leukodystrophy","AxD","ADLD","Canavan Disease","CTX","Cerebrotendinous Xanthomatoses","Krabbe Disease","GALC Deficiency","Globoid Leukodystrophy","TUBB4A-Related Leukodystrophy","H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum","HBSL","HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity","LBSL","Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","ALSP","CSF1R Gene Mutation","HCC - Hypomyelination and Congenital Cataract","MLC1","Megalencephalic Leukoencephalopathy With Subcortical Cysts","MLD","Metachromatic Leukodystrophy","PMD","Pelizaeus-Merzbacher Disease","PLP1 Null Syndrome","PLP1 Gene Duplication | Blood or Tissue | Mutations","Pelizaeus Merzbacher Like Disease","Peroxisomal Biogenesis Disorder","Zellweger Syndrome","Refsum Disease","Salla Disease","Sialic Storage Disease","Sjögren","Sjogren-Larsson Syndrome","Van Der Knapp Disease","Vanishing White Matter Disease","Charcot-Marie-Tooth","CMT","Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency","Allan-Herndon-Dudley Syndrome","Cadasil","Cockayne Syndrome","Multiple Sulfatase Deficiency","Gangliosidoses","GM2 Gangliosidosis","BPAN","Labrune Syndrome","LCC","TBCK-Related Intellectual Disability Syndrome",[141,142,143,144,145,146],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","RECRUITING","2025-10-22",{"date":150,"type":52},"2025-10-23",{"date":152,"type":52},"2016-12-08",{"date":154,"type":22},"2030-12-08",{"name":156,"class":59},"Children's Hospital of Philadelphia",23,{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":162,"acronym":4,"eligibilityCriteria":163,"healthyVolunteers":11,"sex":18,"minAge":164,"maxAge":19,"enrollmentInfo":165,"targetDuration":4,"studyType":72,"phases":4,"briefSummary":167,"conditions":168,"keywords":4,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":173,"lastUpdatePostDateStruct":174,"startDateStruct":176,"completionDateStruct":178,"leadSponsor":180,"locationsCount":4},"100606242","pediatric-arthropathy-beyond-inflammation-clinical-spectrum-and-diagnostic-approach-at-assiut-university-children-hospital-100606242","NCT07173010","Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital","Inclusion Criteria:\n\n* Infants and children up to 18 years at diagnosis.\n* Patients presents with picture of non inflammatory arthropathy as joint deformity, stiffness and skeletal abnormality (arthropathy) with normal inflammatory markers\n\nExclusion Criteria:\n\n* Patients more than 18years.\n* Patients presents with painful,hot, tender or red joints (Arthritis) associated with elevated inflammatory markers .","1 Day",{"count":166,"type":22},35,"To identify the most common underlying causes of non-inflammatory arthropathy in children presenting to Assiut University Children Hospital for through clinical evaluation, laboratory testing, and imaging, in order to improve diagnostic precision, guide appropriate management, and distinguish these conditions from inflammatory joint diseases.",[32,169,170,28,171,172],"Progressive Pseudorheumatoid Dysplasia","Farber Disease","Infantile Systemic Hyalinosis","Idiopathic Multicentric Osteolysis","2025-09-12",{"date":175,"type":52},"2025-09-15",{"date":177,"type":22},"2025-09",{"date":179,"type":22},"2026-10",{"name":181,"class":59},"Assiut University"]