[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"orphan-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:orphan-diseases":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,43,67],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":4,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":25,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100266136","gene-discovery-core-the-manton-center-100266136",false,"NCT02743845","Gene Discovery Core, The Manton Center","Inclusion Criteria:\n\n* Having a known or uncertain rare diagnosis which may have a poorly understood genetic component and\u002For be a relative to a person with such a diagnosis\n\nExclusion Criteria:\n\n* Not having such a diagnosis and\u002For not being related to such an individual","ALL",{"count":17,"type":18},10000,"ESTIMATED","OBSERVATIONAL","The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions. The primary goal of the research is to better understand the genes and proteins (gene products) involved in rare diseases. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with rare disease in the future. Individuals with any rare\u002Fundiagnosed condition are eligible to enroll.\n\nEnrollment includes:\n\n* Providing DNA and tissue samples (when available)\n* Access to participants' medical records\n* Access to genomic data (when available)\n\nSamples are used for genetic analysis (primarily exome and genome sequencing or reanalysis) to identify the genetic cause for the individual's illness. Individual research results are returned to families through their health care provider after confirmation in a clinical lab. If a cause is identified, that can be reported back to the family through their health care provider and the study's genetic counselor. When possible, the investigators also collect samples from parents and full-siblings as well as any other affected family members.",[22,23,24],"Undiagnosed Conditions","Rare Disorders","Orphan Diseases",[26,27,28,29],"Rare","Undiagnosed","Orphan Disease","Genomic Sequencing","RECRUITING","2026-03-24",{"date":33,"type":34},"2026-03-25","ACTUAL",{"date":36,"type":4},"2010-02",{"date":38,"type":18},"2030-12",{"name":40,"class":41},"Boston Children's Hospital","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":52,"conditions":53,"keywords":56,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":65,"locationsCount":42},"100532946","automatic-phenotyping-of-patients-on-2d-photography-100532946","NCT06219421","Automatic Phenotyping of Patients on 2D Photography","AIDY2","The patient inclusion criteria are:\n\n* Patients followed in medical genetics,\n* Patients undergoing maxillofacial surgery, or craniofacial surgery as part of the management of a pathology, of genetic origin or not, associated with dysmorphism of the head and neck,\n* Patients for whom frontal and profile facial photographs are taken as part of their treatment.\n\nThe inclusion criteria for control subjects are:\n\n* Patients followed in maxillofacial surgery, for a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).\n* Patients for whom frontal and profile facial photographs are taken as part of their treatment.\n\nThe criteria for non-inclusion of patients are:\n\n* Patients who have undergone facial or skull surgery before the first photo was taken.\n* Person subject to a judicial safeguard measure.\n* People objecting to the reuse of their health data.\n\nThe criteria for non-inclusion of control subjects are:\n\n* Pathologies affecting facial symmetry (dental cellulitis, displaced fractures).\n* Patient followed for dysmorphic syndrome or in whom dysmorphic syndrome has been suspected.\n* Person subject to a judicial safeguard measure.\n* People objecting to the reuse of their health data.",{"count":51,"type":18},22000,"The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.\n\nIt is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays",[54,24,55],"Dysmorphia","Dysmorphies Craniofaciales",[57],"artificial intelligence","2026-01-08",{"date":60,"type":34},"2026-01-12",{"date":62,"type":34},"2025-01-01",{"date":64,"type":18},"2028-03-01",{"name":66,"class":41},"Imagine Institute",{"id":68,"slug":69,"hasResults":11,"nctId":70,"briefTitle":71,"officialTitle":72,"acronym":4,"eligibilityCriteria":73,"healthyVolunteers":11,"sex":15,"minAge":74,"maxAge":75,"enrollmentInfo":76,"targetDuration":4,"studyType":78,"phases":79,"briefSummary":81,"conditions":82,"keywords":85,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":103},"100572152","education--care-in-rare-efficacy-of-targeted-psychoeducational-intervention-among-pediatric-rare-disease-patients-100572152","NCT06729554","Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients","Education & Care in RARE - Efficacy of Targeted Psychoeducational Intervention to Improve Knowledge About Rare Diseases and to Promote Mental Health Among Pediatric Rare Disease Patients","Inclusion Criteria:\n\n* Children and adolescents with a confirmed diagnosis of a rare disease with\n* Age 5-20 years, corresponding to a developmental age of 5-18 years\n* Existing medical care at a participating study center because of the rare disease\n* Voluntary participation and informed consent\n* Ability to complete the questionnaires\n* Ability to actively participate the intervention (psychoeducation)\n\nExclusion Criteria:\n\n* Moderate or severe cognitive impairment\n* Simultaneous admission of the child \u002F adolescent to a setting with high-frequency psychotherapeutic intervention (e.g. admission to psychosomatic medicine, child and adolescent psychiatry)\n* No informed consent\n* Language barrier of the child \u002F adolescent\n* Assumption that compliance is too low to attend all study appointments","5 Years","20 Years",{"count":77,"type":18},100,"INTERVENTIONAL",[80],"NA","\"Rare Diseases\" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people. Rare diseases predominantly affect children and adolescents and are associated with high medical and psychosocial burden of disease.\n\nThe investigators invented Education \\& Care in RARE - a short-term, structured, resource-oriented and child-friendly psychoeducation program for children and adolescents with rare diseases.\n\nThis study is a prospective, multicenter, randomized and controlled study with a waiting list. Aim of the study is to investigate the efficacy of Education \\& Care in RARE on knowledge about rare diseases and on mental health well-being in pediatric rare disease patients, compared to a control group.\n\nIn this study participants are randomized in an intervention group and a waiting list control group. Both study groups thus receive the psychoeducation with Education \\& Care in RARE and complete the identical questionnaires. Compared to the Intervention group, the waiting list control group receives the intervention with a time delay (8-12 weeks later) and has one additional appointment for questionnaire evaluation before start of the psychoeducation.",[24,23,83,84],"Pediatric Diseases","Inborn Errors of Metabolism Disorders",[86,87,88,89,90,91,92,93],"Rare diseases","ultra-rare diseases","psychoeducation in pediatrics","psychoeducation for alle rare diseases","rare pediatric diseases","orphan diseases psychoeducation","rare disease burden","waiting list control study","2025-05-12",{"date":96,"type":34},"2025-05-13",{"date":98,"type":34},"2024-12-15",{"date":100,"type":18},"2027-12-01",{"name":102,"class":41},"Medical University of Vienna",7]