[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"osteogenesis-imperfecta\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:osteogenesis-imperfecta":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,12,0,[8,61,90,115,144,173,201,230,257,281,308,333],{"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":4,"eligibilityCriteria":67,"healthyVolunteers":11,"sex":18,"minAge":68,"maxAge":69,"enrollmentInfo":70,"targetDuration":4,"studyType":23,"phases":72,"briefSummary":74,"conditions":75,"keywords":76,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":49,"lastUpdatePostDateStruct":80,"startDateStruct":82,"completionDateStruct":84,"leadSponsor":86,"locationsCount":89},"100621089","phase-3-pediatric-safety-follow-up-study-of-prior-treatment-with-romosozumab-for-osteogenesis-imperfecta-100621089","NCT07366086","Pediatric Safety Follow-up Study of Prior Treatment With Romosozumab for Osteogenesis Imperfecta","Multicenter, Safety Follow-up Study to Assess Safety of Prior Treatment With Romosozumab in Children and Adolescents With Osteogenesis Imperfecta","Inclusion Criteria:\n\n\\- Participant has provided informed consent\u002Fassent prior to initiation of any trial specific activities\u002Fprocedures.\n\nOR Participant's legally authorized representative has provided informed consent when the participant is legally too young to provide informed consent, and the participant has provided written assent based on local regulations and\u002For guidelines prior to any trial-specific activities\u002Fprocedures being initiated.\n\n\\- Participant was randomized to the romosozumab arm and completed Trial 20200105 through the Month 15 Visit, regardless of whether they received investigational product (romosozumab) until the last protocol-specified dose or ended investigational product early.\n\nExclusion Criteria:\n\n* Currently receiving treatment in another investigational device or drug trial, or less than 2 years since ending treatment on another investigational device or drug trial(ies) with the exception of trial 20200105. Other investigational procedures while participating in this trial are excluded.\n* Participant likely to not be available to complete all protocol-required trial visits or procedures, and\u002For to comply with all required trial procedures to the best of the participant and investigator's knowledge.","5 Years","19 Years",{"count":71,"type":22},71,[73],"PHASE3","The primary objective of this trial is to evaluate the safety of romosozumab in participants with osteogenesis imperfecta (OI) that have completed Study 20200105, regardless of whether they received investigational product (romosozumab) until the last protocol-specified dose or ended investigational product early.",[28],[77,78],"Romosozumab","EVENITY","RECRUITING",{"date":81,"type":52},"2026-06-22",{"date":83,"type":52},"2026-03-18",{"date":85,"type":22},"2028-04-19",{"name":87,"class":88},"Amgen","INDUSTRY",4,{"id":91,"slug":92,"hasResults":11,"nctId":93,"briefTitle":94,"officialTitle":95,"acronym":4,"eligibilityCriteria":96,"healthyVolunteers":11,"sex":18,"minAge":97,"maxAge":98,"enrollmentInfo":99,"targetDuration":4,"studyType":23,"phases":100,"briefSummary":103,"conditions":104,"keywords":4,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":106,"lastUpdatePostDateStruct":107,"startDateStruct":109,"completionDateStruct":111,"leadSponsor":113,"locationsCount":4},"100482267","phase-1-mesenchymal-cell-therapy-in-osteogenesis-imperfecta-oi-100482267","NCT05559801","Mesenchymal Cell Therapy in Osteogenesis Imperfecta (OI)","A Phase 1\u002F2 Study to Examine the Safety and Preliminary Efficacy of Mesenchymal Stromal Cells on Linear Growth and Bone Health Parameters in Children With Type 3 Osteogenesis Imperfecta (OI)","Inclusion Criteria:\n\n* 1\\. Parent\u002Flegal guardian must be willing to sign consent forms to participate in this trial 2. Participants must be \\>3 years of age and \\\u003C10 years of age at time of enrollment 3. Must carry mutation in either COL1A1 or COL1A2 genes and based on clinical assessment have severe Type 3 OI\\* 4. Must be pre-pubertal to minimize potential influence of hormonal effects on growth velocity and BMD; for children who may be entering puberty at or near upper end of this age bracket, puberty assessment will be based on clinical and laboratory findings 5. Must have received IV pamidronate therapy for at least one year prior to study initiation.\n\n  * Type 3 OI will be confirmed with an Invitae Skeletal Dysplasia test, and clinical assessment including:\n\n    * Blue\u002Fgrey sclerae\n    * Presence of prenatal fractures (on ultrasound when available)\n    * Deformities present at birth (confirming prenatal fractures)\n    * Severity of fractures and progressive deformities although no absolute 'number' of fractures is available\n\nExclusion Criteria:\n\n1. Lacking confirmation of mutation in either COLA1A1 or COL1A2 genes\n2. Other pathological types of OI\n3. Any concurrent medical issue(s) known to decrease BMD (e.g., malabsorption conditions, glucocorticoid use)\n4. Participation in other clinical trial\n5. Vitamin D deficiency (\\\u003C20 ng\u002FdL) despite treatment\n6. Clinically significant thrombocytopenia as defined by a platelet count of \\\u003C 150,000x103\u002Fmicroliter ; anemia as defined by hemoglobin \\\u003C 5th percentile for age (\\\u003C11.5g\u002FdL); neutropenia as defined by absolute neutrophil count \\\u003C 1.5 x103\u002Fmicroliter; or elevations in the white blood cell count as defined by 3-6 year old-WBC \\> 15.5WBC x 103\u002Fmicroliter; 6-9 year old WBC \\>13.5 x103\u002Fmicroliter (Flerlage 2015)\n\n8\\. PRA screening positive for anti-HLA antibodies 9. Elevated LFT's greater than 2 times the upper limit of normal 10. Other genetic disorders 11. Other skeletal dysplasia disorders 12. Other primary or secondary bone disorders 13. History of acute or chronic infections 14. History of cancer 15. History of thrombosis or prothrombotic disorders 16. History of heart disease 17. History of diabetes 18. History of strokes 19. History of vascular conditions 20. History of lung disease","3 Years","10 Years",{"count":5,"type":22},[101,102],"PHASE1","PHASE2","This is a Phase 1\u002F2 study to determine the safety and efficacy of allogeneic (third party), bone-marrow derived mesenchymal stromal cells (MSCs) for the treatment of Osteogenesis Imperfecta (OI) Type 3. It will evaluate this by looking at whether there are treatment related infusion reactions, and assessing linear growth rates and bone health, both of which are impaired in patients ages 3-10 with Osteogenesis Imperfecta Type 3. This is a single-site non-randomized clinical trial, that will take place at Children's Healthcare of Atlanta (CHOA) at Egleston and Emory Children's Center.",[28,105],"Osteogenesis Imperfecta Type III","2026-05-06",{"date":108,"type":52},"2026-05-08",{"date":110,"type":22},"2027-01",{"date":112,"type":22},"2029-01",{"name":114,"class":59},"Emory University",{"id":116,"slug":117,"hasResults":11,"nctId":118,"briefTitle":119,"officialTitle":120,"acronym":121,"eligibilityCriteria":122,"healthyVolunteers":11,"sex":18,"minAge":123,"maxAge":19,"enrollmentInfo":124,"targetDuration":4,"studyType":23,"phases":126,"briefSummary":127,"conditions":128,"keywords":129,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":135,"lastUpdatePostDateStruct":136,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":143},"100510511","adapted-physical-activity-program-apa-for-effort-rehabilitation-of-children-and-teenagers-with-osteogenesis-imperfecta-100510511","NCT05927389","Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta","BONeMOVE : an Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta: an Interventional, Prospective, Regional, Bicentric Study.","BONeMOVE","Inclusion Criteria:\n\n* Diagnosed Osteogenesis Imperfecta\n* Informed and written consent signed by at least one of the two holders of parental authority\n* Patient affiliated to a social security scheme or equivalent\n\nExclusion Criteria:\n\n* Non-walking children (unable to perform the effort test)\n* Pregnant or breastfeeding\n* Participation in other interventional research","7 Years",{"count":125,"type":22},30,[25],"This research study aims to evaluate the effect of a 6-month adapted physical activity program (APA) on the endurance capacities (evaluated as the maximum oxygen consumption \\[VO2 peak\\]) of children and adolescents with Osteogenesis Imperfecta.",[28],[28,130,131,132,133,134],"Children","Adolescents","Maximum oxygen consumption","Adapted physical activity","Effort rehabilitation","2026-05-04",{"date":108,"type":52},{"date":138,"type":52},"2024-02-26",{"date":140,"type":22},"2027-08-26",{"name":142,"class":59},"University Hospital, Toulouse",2,{"id":145,"slug":146,"hasResults":11,"nctId":147,"briefTitle":148,"officialTitle":149,"acronym":4,"eligibilityCriteria":150,"healthyVolunteers":17,"sex":18,"minAge":151,"maxAge":152,"enrollmentInfo":153,"targetDuration":4,"studyType":23,"phases":155,"briefSummary":157,"conditions":158,"keywords":159,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":166,"startDateStruct":168,"completionDateStruct":170,"leadSponsor":171,"locationsCount":60},"100374214","phase-4-effects-of-bisphosphonates-on-oi-related-hearing-loss-100374214","NCT04152551","Effects of Bisphosphonates on OI-Related Hearing Loss","Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study","Inclusion Criteria (Adult Treatment Arm):\n\n* Diagnosis of OI type I\n* Diagnosis of at least mild hearing loss (\\>20dB pure tone average) by audiogram testing\n* 18+\n* Vitamin D level \\> 30\n\nInclusion Criteria (Adult Control Arm):\n\n* Diagnosis of OI type I\n\nInclusion Criteria (Child Observational Bisphosphonate Arm)\n\n* Diagnosis of OI\n* Age 6-17 years\n* Currently receiving bisphosphonate treatment as standard of care\n\nInclusion Criteria (Child Observational No Treatment Arm)\n\n* Diagnosis of OI\n* Age 6-17 years\n* NOT receiving bisphosphonate treatment and will not receive bisphosphonate treatment for the duration of the study\n\nExclusion Criteria (ALL ARMS):\n\n* Family history of hearing-loss (not related to OI or occupational hearing loss)\n* Pregnancy","6 Years","100 Years",{"count":154,"type":22},100,[156],"PHASE4","Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with OI-related hearing loss also present with otosclerosis and because of their mechanistic similarities, the investigators propose studying the effects of bisphosphonate treatment on individuals diagnosed with both OI type I and hearing loss, thereby determining its effectiveness as a potential treatment for hearing loss.\n\nThe investigators will enroll 50 individuals diagnosed with type I OI and age 18-100. 25 adults will be enrolled into the treatment arm and receive bisphosphonate treatment (must have at least mild hearing loss), while 25 adults will be enrolled into the control arm. The investigators will enroll 25 children (6-17 years of age) diagnosed with OI who are currently receiving bisphosphonate treatment as part of their care for orthopedic symptoms. The investigators will also observe 25 children (6-17 years of age) diagnosed with OI who are NOT currently receiving bisphosphonate treatment. The study duration is 63 months (approximately 5 years). Enrollment is anticipated to begin in November 2019.",[28],[160,161,162,163,45,164],"hearing loss","bisphosphonate","skeletal dysplasia","brittle bone disorder","OI","2026-04-23",{"date":167,"type":52},"2026-04-28",{"date":169,"type":52},"2019-11-02",{"date":110,"type":22},{"name":172,"class":59},"Hospital for Special Surgery, New York",{"id":174,"slug":175,"hasResults":11,"nctId":176,"briefTitle":177,"officialTitle":178,"acronym":4,"eligibilityCriteria":179,"healthyVolunteers":11,"sex":18,"minAge":68,"maxAge":19,"enrollmentInfo":180,"targetDuration":4,"studyType":23,"phases":181,"briefSummary":182,"conditions":183,"keywords":4,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":192,"lastUpdatePostDateStruct":193,"startDateStruct":195,"completionDateStruct":197,"leadSponsor":199,"locationsCount":60},"100624680","rems25-study-on-the-use-of-rems-technology-in-diseases-commonly-associated-with-reduced-bone-mineral-density-bmd-100624680","NCT07412782","REMS25: Study on the Use of REMS Technology in Diseases Commonly Associated With Reduced Bone Mineral Density (BMD)","Observational Study for the Assessment of Bone Mineral Density (BMD) Using REMS Technology","Inclusion Criteria:\n\n* Written informed consent from adult patients or parents\u002Flegal guardians\n* Age between 5 and 18 years\n* Both sexes and all ethnicities\n* Known condition negatively affecting bone health\n\nExclusion Criteria:\n\n\\- Age below 5 years or over 18 years",{"count":154,"type":22},[25],"This study evaluates bone mineral density (BMD) in pediatric patients aged 5-18 years with conditions negatively affecting bone health, using REMS (Radiofrequency Echographic Multi Spectrometry), a non-invasive and radiation-free ultrasound technology. Bone health is crucial during childhood, when peak bone mass develops, and reduced BMD is associated with increased fracture risk. DXA is the current reference method but has limitations in children, including radiation exposure and growth-related measurement issues. REMS has been validated in adults and shows promise in pediatrics, despite the lack of reference values. The study is a single-center, national, non-profit interventional study lasting about 12 months. Participants will undergo REMS BMD measurement, clinical history collection, and assessment of anthropometric and pubertal parameters, with prior DXA data collected when available. The primary aim is to describe BMD values measured by REMS in pediatric osteoporosis, with secondary aims including subgroup analyses and comparison with DXA. A sample of 100 patients is planned. Statistical analyses will assess BMD distributions, correlations with clinical variables, and agreement between REMS and DXA using correlation coefficients and Bland-Altman analysis.",[28,184,185,186,187,188,189,190,191],"Osteoporosis","Hypogonadisms","Neoplasia","Obesity & Overweight","Malnutrition (Calorie)","Hypercortisolism","Growth Hormone Deficiency (GHD)","Osteopenia","2026-02-13",{"date":194,"type":52},"2026-02-17",{"date":196,"type":52},"2025-12-04",{"date":198,"type":22},"2026-12-31",{"name":200,"class":59},"Meyer Children's Hospital IRCCS",{"id":202,"slug":203,"hasResults":11,"nctId":204,"briefTitle":205,"officialTitle":206,"acronym":207,"eligibilityCriteria":208,"healthyVolunteers":11,"sex":18,"minAge":68,"maxAge":209,"enrollmentInfo":210,"targetDuration":4,"studyType":212,"phases":4,"briefSummary":213,"conditions":214,"keywords":216,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":221,"lastUpdatePostDateStruct":222,"startDateStruct":224,"completionDateStruct":226,"leadSponsor":228,"locationsCount":60},"100615026","prospective-observational-cohort-study-of-cardiac-structure-and-function-in-children-and-adults-with-osteogenesis-imperfecta-100615026","NCT07287241","Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta","Evaluation of Cardiac Function and Morphology in Individuals With Osteogenesis Imperfecta: Prospective Observational Study","OI Cardio","Inclusion Criteria:\n\n* Diagnosis of OI according to the modified Sillence classification (Mortier et al., 2019)\n* All subjects with OI who attend genetic consultations at the clinic affiliated with the Rare Skeletal Diseases Unit of the IRCCS Rizzoli Orthopaedic Institute (IOR)\n* Willingness to undergo clinical and instrumental assessments at the IOR\n\nExclusion Criteria:\n\n* Acute upper and\u002For lower respiratory tract infections at the time of assessment\n* Cognitive impairment affecting cooperation and the performance of examinations","80 Years",{"count":211,"type":22},40,"OBSERVATIONAL","This prospective observational investigation will examine the incidence and progression of cardiologic findings in individuals with OI across different age groups. Cardiopulmonary complications are recognized as major contributors to morbidity and mortality in adults with OI, although life expectancy has significantly improved in recent years due to medical advancements.\n\nBy systematically evaluating cardiovascular involvement in this population, the study aims to generate clinically relevant evidence to inform early cardiologic screening strategies and support the development of harmonized and targeted management approaches, ultimately improving clinical practice and the quality of life of individuals living with OI.",[215,28],"Osteogenesis Imperfecta (OI)",[28,217,218,219,220],"Bone Diseases","Musculoskeletal Diseases","Genetic Diseases","Observational Study","2025-12-16",{"date":223,"type":52},"2025-12-17",{"date":225,"type":52},"2025-06-10",{"date":227,"type":22},"2031-12",{"name":229,"class":59},"Istituto Ortopedico Rizzoli",{"id":231,"slug":232,"hasResults":11,"nctId":233,"briefTitle":234,"officialTitle":235,"acronym":236,"eligibilityCriteria":237,"healthyVolunteers":17,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":238,"targetDuration":240,"studyType":212,"phases":4,"briefSummary":241,"conditions":242,"keywords":243,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":248,"lastUpdatePostDateStruct":249,"startDateStruct":251,"completionDateStruct":253,"leadSponsor":255,"locationsCount":60},"100371392","registry-of-osteogenesis-imperfecta-100371392","NCT04115774","Registry of Osteogenesis Imperfecta","Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data is Linked to Patients Biological Samples, When Available","ROI","Inclusion Criteria:\n\n* All Osteogenesis Imperfecta patients, including prenatal and fetal diagnosis of Osteogenesis Imperfecta\n\nExclusion Criteria:\n\n* Any condition unrelated to Osteogenesis Imperfecta",{"count":239,"type":22},5000,"25 Years","ROI 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. This 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 diseases 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.",[28],[244,245,246,247],"Disease Registry","Natural History Study","Disease Evolution","Genotype-Phenotype Correlation","2025-11-17",{"date":250,"type":52},"2025-11-20",{"date":252,"type":52},"2013-06-28",{"date":254,"type":22},"2032-02-29",{"name":256,"class":59},"Luca Sangiorgi",{"id":258,"slug":259,"hasResults":11,"nctId":260,"briefTitle":261,"officialTitle":261,"acronym":4,"eligibilityCriteria":262,"healthyVolunteers":11,"sex":18,"minAge":263,"maxAge":19,"enrollmentInfo":264,"targetDuration":4,"studyType":212,"phases":4,"briefSummary":266,"conditions":267,"keywords":4,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":272,"lastUpdatePostDateStruct":273,"startDateStruct":275,"completionDateStruct":277,"leadSponsor":279,"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":265,"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.",[32,268,269,28,270,271],"Progressive Pseudorheumatoid Dysplasia","Farber Disease","Infantile Systemic Hyalinosis","Idiopathic Multicentric Osteolysis","2025-09-12",{"date":274,"type":52},"2025-09-15",{"date":276,"type":22},"2025-09",{"date":278,"type":22},"2026-10",{"name":280,"class":59},"Assiut University",{"id":282,"slug":283,"hasResults":11,"nctId":284,"briefTitle":285,"officialTitle":285,"acronym":286,"eligibilityCriteria":287,"healthyVolunteers":11,"sex":18,"minAge":288,"maxAge":289,"enrollmentInfo":290,"targetDuration":4,"studyType":212,"phases":4,"briefSummary":292,"conditions":293,"keywords":294,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":300,"lastUpdatePostDateStruct":301,"startDateStruct":302,"completionDateStruct":304,"leadSponsor":306,"locationsCount":60},"100471521","audio-vestibular-evaluation-of-children-and-young-adults-with-osteogenesis-imperfecta-100471521","NCT05419960","Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta","AVOI","Inclusion Criteria:\n\n* Patients between the ages of 12-20 years at the time of inclusion\n* Diagnosis of Osteogenesis Imperfecta of any type\n* Currently followed by a physician at the CRMR OI\n* Information and non-opposition of major patients, holders of parental authority and minor patients to participate in the study\n\nExclusion Criteria:\n\n* Patients with hearing loss of alternate origin e.g. Cochlear nerve deficiency, atresia, etc.\n* Neurological or developmental deficits limiting participation\n* Cervico-occipital instability e.g. Chiari's malformation\n* Limitations in mobility of the spine e.g. scoliosis, spinal fractural fusion\n* Ophthalmologic pathologies e.g. strabism or severe refraction disorder\n* Patients under AME (State Medical Aid)\n* Protected adult patients, adults unable to express their consent, pregnant or breastfeeding women","12 Years","20 Years",{"count":291,"type":22},44,"The aim is to determine whether vestibular deficits are present in OI, then to establish whether a correlation exists between genetic type, severity of OI and audiovestibular phenotype. OI patients aged 12 to 20 years will undergo an audiometric, immittance, and vestibular assessment. When hearing loss is conductive or mixed or in cases where vestibular deficits are identified, a CT scan without injection will be performed. In case of sensorineural hearing loss or abnormal CT results, an MRI will be performed.",[28],[295,296,297,298,299],"Osteogenesis imperfecta","Vestibular deficits","Correlation between vestibular impairment and radiological findings","Bone abnormalities","Severity of the deafness","2025-09-05",{"date":272,"type":52},{"date":303,"type":52},"2022-12-22",{"date":305,"type":22},"2027-12-22",{"name":307,"class":59},"Assistance Publique - Hôpitaux de Paris",{"id":309,"slug":310,"hasResults":11,"nctId":311,"briefTitle":312,"officialTitle":313,"acronym":4,"eligibilityCriteria":314,"healthyVolunteers":11,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":315,"targetDuration":4,"studyType":212,"phases":4,"briefSummary":317,"conditions":318,"keywords":319,"overallStatus":79,"whyStopped":4,"lastUpdateSubmitDate":324,"lastUpdatePostDateStruct":325,"startDateStruct":327,"completionDateStruct":329,"leadSponsor":331,"locationsCount":5},"100242310","bbd-longitudinal-study-of-osteogenesis-imperfecta-100242310","NCT02432625","BBD Longitudinal Study of Osteogenesis Imperfecta","Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta","Natural History Study:\n\nInclusion Criteria:\n\n* Individuals with OI diagnosed by molecular (DNA) analysis OR\n* Individuals whose clinical history and radiographs are highly suggestive of OI, but whose diagnosis has not been verified by biochemical or molecular studies\n\nExclusion criteria:\n\n* Individuals who are unable to return for their scheduled follow up visits.\n* Individuals with skeletal dysplasias other than OI\n* Individuals with OI and a second genetic or syndromic diagnosis\n\nVertebral Compression Fractures component Inclusion criteria\n\n• Patients with nonsense or frameshift mutations in COL1A1 or COL1A2 of any age and clinical features of OI type I.\n\nExclusion criteria\n\n* Use of a bone-acting treatment agent such as bisphosphonates, calcitonin, calcitriol, fluoride, etc., within one year of enrollment.\n* Conditions other than Osteogenesis Imperfecta-HaploInsufficiency (OI-HI) affecting muscle and\u002For bone development (i.e. cerebral palsy, rickets)\n* Nonsense or frame shift mutations in the final coding exons of COL1A1 or COL1A2, as this may not lead to haploinsufficiency.\n\nScoliosis in OI component:\n\nInclusion Criteria\n\n* All study participants between the ages of 3 to 17 years OR\n* Study participants 18 years and older with scoliosis\n\nDental and Craniofacial Abnormalities in OI component:\n\nInclusion Criteria • All subjects aged 3 years and older enrolled in the Longitudinal Study Exclusion Criteria Subjects who refuse the dental examination\n\nPregnancy in OI component:\n\nInclusion criteria\n\n• Females of reproductive age with mutations in any known gene causing OI, who are contemplating pregnancy within 5 years of enrollment in the Natural History Study OR Females who are pregnant with available pre-pregnancy BMD (within 5 years prior to the first pregnancy visit).\n\nExclusion criteria\n\n* Males\n* Females who are peri-menopausal or menopausal\n* Females who had gestations associated with higher order multiples.",{"count":316,"type":22},1000,"Osteogenesis Imperfecta (OI) is a rare disorder of increased bone fragility characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. The clinical features of OI represent a continuum varying from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. Fractures can occur in any bone, but are most common in the extremities. These disorders can be devastating and progressive and result in deformity, chronic pain, impaired function and loss of quality of life.\n\nThe overall goal of this study is to answer specific question about the natural history of brittle bone diseases as defined by molecular etiology and to develop the foundation for prospective clinical studies.",[28],[28,320,321,322,323],"Collagen","Brittle Bone Disorder","Rare Disease Clinical Research Network","COL1A2","2025-08-08",{"date":326,"type":52},"2025-08-13",{"date":328,"type":52},"2015-06-01",{"date":330,"type":22},"2031-12-31",{"name":332,"class":59},"Baylor College of Medicine",{"id":334,"slug":335,"hasResults":11,"nctId":336,"briefTitle":337,"officialTitle":338,"acronym":4,"eligibilityCriteria":339,"healthyVolunteers":17,"sex":18,"minAge":19,"maxAge":340,"enrollmentInfo":341,"targetDuration":4,"studyType":212,"phases":4,"briefSummary":343,"conditions":344,"keywords":4,"overallStatus":48,"whyStopped":4,"lastUpdateSubmitDate":347,"lastUpdatePostDateStruct":348,"startDateStruct":350,"completionDateStruct":352,"leadSponsor":354,"locationsCount":4},"100459084","site-preservation-after-tooth-extraction-100459084","NCT05258019","Site Preservation After Tooth Extraction","Prospective Clinical Study on Site Preservation of Alveolar Ridge After Tooth Extraction Before Dental Implantation","Inclusion Criteria:\n\n* patients willing to performed site preservation with Geistlich Bio-Oss ® Particles + Bio-Gide ® collagen membrane after tooth extraction;\n* patients willing to performed site preservation with Geistlich Bio-Oss ® Collagen + Bio-Gide ® collagen membrane after tooth extraction;\n* patients willing to performed no site preservation after tooth extraction and only conventional healing.\n\nExclusion Criteria:\n\n* patients unwilling to sign the informed consent form and the letter of authorization;\n* patients has a potential systematic diseases;\n* patients had previously been treated with radiation therapy;\n* patients can not re-visit on time.","60 Years",{"count":342,"type":22},88,"This study is mainly targeted affected teeth which could not be retained, and patients are willing to undergo implant repair at the later stage. After teeth extraction, Geistlich Bio-Oss ® Particles or Bio-Oss ® Collagen are immediately implanted in the teeth extraction socket and covered with Bio-Gide ® collagen membrane for site preservation.Through postoperative follow-up, postoperative clinical and imaging objective indicators, combined with the subjective evaluation of surgeons and patients, and compared with conventional extraction treatment method, the study is aimed to evaluate the effectiveness of different site preservation of alveolar crest preservation, in order to reduce the alveolar bone width and height loss, effectively reduce alveolar bone absorption, or even achieve bone incrementation, thus to get the ideal site preservation effect, to improve the oral implant success rate, improve implant aesthetic score and patient satisfaction, provide more clinical standard reference of the clinical application of site preservation.",[28,345,346],"Total Absence of Permanent Teeth","Tooth Socket","2023-03-28",{"date":349,"type":52},"2023-03-30",{"date":351,"type":22},"2023-11-01",{"date":353,"type":22},"2027-10-31",{"name":355,"class":59},"Nanfang Hospital, Southern Medical University"]