[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rare-disorders\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rare-disorders":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,8,0,[8,44,77,102,129,155,183,587],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":27,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":4,"leadSponsor":40,"locationsCount":43},"100139552","genome-medical-sequencing-for-gene-discovery-100139552",false,"NCT01087320","Genome Medical Sequencing for Gene Discovery","* INCLUSION CRITERIA:\n\nAn individual who is affected with a disorder under study and is older than 4 weeks. Our initial list of exemplar disorders has been discontinued; these disorders were examples of those which meet the general attributes for inclusion in this protocol. As stated above, individuals with disorders we choose to investigate under this protocol will generally represent simplex cases with rare phenotypes whose molecular etiology is unknown.\n\nIn rare instances, we may accept DNA from deceased individuals, including DNA or other saved biological specimens from deceased fetuses\u002Fneonates in accordance with Policy 400. These samples may provide us exceptional opportunities to study variants and manifestations of severe genetic overgrowth disorders where the fetus\u002Fneonate is unviable due to the severity of manifestations. In the rare circumstance where we plan to accept samples from non-viable fetuses\u002Fneonates, we may engage with pregnant mothers to begin consent discussions and coordinate specimen collection. We will only enroll pregnant women who voluntarily donate fetal tissue from invasive prenatal testing, and for which trio analysis is appropriate and necessary. While rare, there may be circumstances in which the scientific objectives (to elucidate the molecular etiology of the proband s genetic condition) would not be possible without analyzing the DNA of the fetus\u002Fproband and the biological parents. The conditions set under 45CFR46.205 are met for the inclusion of non-viable neonates:\n\n* Vital functions of the neonate will not be artificially maintained;\n* The research will not terminate the heartbeat or respiration of the neonate;\n* There will be no added risk to the neonate resulting from the research;\n* The purpose of the research is the development of important biomedical knowledge that cannot be obtained by any other means; and\n* The legally effective informed consent is obtained in accord with applicable regulations.\n\nFamily members of an affected individual where that family member (often a parent) is potentially informative or useful for linkage or other bioinformatic analyses of genetic variants may be enrolled. Probands who are minors or decisionally impaired adults are eligible if they have a parent or legal guardian who has authority to sign a consent form on their behalf.\n\nEXCLUSION INCLUSION:\n\nProbands who are adults and decisionally impaired are ineligible if they do not have a legal guardian who has authority to sign a consent form on their behalf.\n\nSubjects who have known, significant affective or psychiatric disorders that, in the judgment of the team, may impair their ability to understand and appropriately use complex medical and genetic information will be considered decisionally-impaired and will be ineligible unless they have appointed (or, in the case of minor children, are in the custody of) an appropriate surrogate decision-maker.\n\nIn addition, guardianship for cognitively impaired adult probands must be legally established and proof of guardianship must be supplied prior to that family s enrollment.\n\nWe request the ability to use this protocol for multiple genetic disorders, without specifically delineating them a priori. We believe this approach to be appropriate because for nearly all inherited disorders, the risks and benefits of GSMS do not substantively differ. This concept was validated by our now-closed protocol 94-HG-0193, which was a broad-based protocol for heritable congenital anomaly disorders, many of which do not fall neatly into a specific diagnostic classification.\n\nAs mentioned, we may request permission to retain some information about prospective participants who, at the time of their inquiry, may not be eligible for the study but who could become eligible in the future. As these participants will not be signing a consent form, we propose to NOT count these participants in our Inclusion Enrollment Reports but will provide the IRB with a tally of retained records at each Continuing Review.\n\nConsent documents for this protocol are available in English and Spanish. In rare instances, we may enroll participants who speak other languages using the NIH Short Written Consent Form Translation.\n\nWe will not enroll pregnant women, except as outlined in the section above.","ALL","4 Weeks","99 Years",{"count":19,"type":20},2000,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients.\n\nObjectives:\n\n* To identify the genetic cause of disorders that are difficult to identify with existing techniques.\n* To develop best practices for the medical and counseling challenges of genome sequencing.\n\nEligibility:\n\n* Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers.\n* Family members of affected individuals, if that family member (often a parent) may provide genetic information.\n\nDesign:\n\nParticipants in this study will have at least one and in some cases several of the following procedures:\n\n* A medical genetics evaluation.\n* Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies.\n* Clinical photographs to document certain aspects of the disorder.\n* Blood, saliva, and skin biopsy samples, or other tissue samples, as required by the study doctors.\n* Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes.\n* Participants will have choices about what kinds of results from genome sequencing they wish to learn.\n* After the tests have been completed and the results of the genetic studies are known, participants may be offered a return visit to the National Institutes of Health to learn these results, or the results may be returned by telephone or by a participant's home provider.",[24,25,26],"Intellectual Disabilities","Congenital Anomaly","Rare Disorders",[26,28,29,30,31,32],"Natural History","Genome Sequencing","Genetic Disorders","Congenital Disorders","Inherited Diseases","RECRUITING","2026-06-16",{"date":36,"type":37},"2026-06-17","ACTUAL",{"date":39,"type":37},"2010-02-18",{"name":41,"class":42},"National Human Genome Research Institute (NHGRI)","NIH",1,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":15,"minAge":51,"maxAge":4,"enrollmentInfo":52,"targetDuration":4,"studyType":54,"phases":55,"briefSummary":57,"conditions":58,"keywords":60,"overallStatus":66,"whyStopped":4,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":76},"100641815","ai-for-rare-disease-diagnosis-in-real-world-100641815","NCT07650799","AI for Rare Disease Diagnosis in Real World","A Multicentre, Prospective, Cluster-Randomised, Parallel-Controlled Trial of a Rare-Disease Large Language Model in Real-World Clinical Settings","Patient Inclusion Criteria:\n\n* Any age. Legal guardian co-signs consent for minors or individuals lacking legal capacity.\n* Diagnostically unresolved or suspected rare disease, with at least one prior complete clinical evaluation at a secondary-level or higher institution yielding no confirmed explanatory diagnosis.\n* First presentation to the enrolling institution for the current condition, with no prior records in the institutional HIS or outpatient system.\n* No prior genetic testing related to the current condition; no results or reports available.\n* Written informed consent provided voluntarily by patient or legal guardian, with commitment and ability to complete structured follow-up.\n\nPatient Exclusion Criteria:\n\n* Confirmed diagnosis (clinical, pathological, or molecular) explaining the primary symptoms.\n* Emergency presentation, critical illness, or any condition incompatible with trial participation.\n* Neither patient nor legally authorised proxy able to complete follow-up.\n* Concurrent enrollment in another interventional study with diagnostic accuracy or genetic testing yield as a primary endpoint.\n* Prior use of another AI system has already yielded a confirmed diagnosis for the current condition.\n\nPhysician Inclusion Criteria\n\n* Licensed physician in internal medicine, neurology, pediatrics, general medicine, rare disease, or a related specialty.\n* ≥2 years of clinical practice; competent to manage rare disease patients; stratified into junior or senior tier.\n* Voluntary participation with written informed consent.\n\nPhysician Exclusion Criteria\n\n* No longer in clinical practice, or unable to fulfill required outpatient duties during the study period.\n* Unwilling to provide informed consent or to permit protocol-required collection of consultation and questionnaire data.\n* Currently enrolled in another AI-assisted clinical workflow, or expected to be unable to comply with the procedures.","0 Years",{"count":53,"type":20},1055,"INTERVENTIONAL",[56],"NA","A multicentre, prospective, cluster-randomised, parallel-controlled real-world effectiveness study evaluating whether a rare-disease diagnostic large language model can improve diagnostic quality, efficiency, and health-economic outcomes for physicians managing patients with suspected rare or diagnostically unresolved disease.",[26,59],"Rare Diseases",[61,62,63,64,65],"rare diseases","AI","LLM","diagnosis","cost-effectiveness","NOT_YET_RECRUITING","2026-06-14",{"date":34,"type":37},{"date":70,"type":20},"2026-06-20",{"date":72,"type":20},"2027-12-01",{"name":74,"class":75},"Peking Union Medical College Hospital","OTHER",13,{"id":78,"slug":79,"hasResults":11,"nctId":80,"briefTitle":81,"officialTitle":82,"acronym":4,"eligibilityCriteria":83,"healthyVolunteers":84,"sex":15,"minAge":85,"maxAge":4,"enrollmentInfo":86,"targetDuration":4,"studyType":54,"phases":88,"briefSummary":89,"conditions":90,"keywords":91,"overallStatus":66,"whyStopped":4,"lastUpdateSubmitDate":95,"lastUpdatePostDateStruct":96,"startDateStruct":98,"completionDateStruct":99,"leadSponsor":101,"locationsCount":76},"100638449","artificial-intelligence-for-rare-disease-diagnosis-100638449","NCT07625436","Artificial Intelligence for Rare Disease Diagnosis","A Multicentre, Randomised Diagnostic Accuracy Study Evaluating AI Assisted Diagnosis of Rare Diseases","Inclusion Criteria:\n\n* 1\\. Licensed physicians at the junior or senior level affiliated with internal medicine, neurology, pediatrics, and rare disease-related departments.\n* 2\\. Willingness to provide written informed consent, adhere to trial protocols, and complete all required pre-study training prior to enrollment.\n\nExclusion Criteria:\n\n* 1\\. Prior exposure to any of the clinical cases included in the study case library.\n* 2\\. Direct participation in the design or development of the AI model.",true,"18 Years",{"count":87,"type":20},150,[56],"A multicentre, randomised diagnostic accuracy study to evaluate whether the rare disease-specific AI can improve diagnostic accuracy and efficiency for physicians managing real-world clinical cases.",[26,59],[59,92,93,94],"Artificial Intelligence","Clinical Decision Support System (CDSS)","Diagnosis","2026-06-03",{"date":97,"type":37},"2026-06-04",{"date":70,"type":20},{"date":100,"type":20},"2027-06-01",{"name":74,"class":75},{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":108,"eligibilityCriteria":109,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":110,"enrollmentInfo":111,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":113,"conditions":114,"keywords":115,"overallStatus":66,"whyStopped":4,"lastUpdateSubmitDate":120,"lastUpdatePostDateStruct":121,"startDateStruct":123,"completionDateStruct":125,"leadSponsor":127,"locationsCount":4},"100566520","implementing-dynamic-consent-for-rare-disease-patients-100566520","NCT06656247","Implementing Dynamic Consent for Rare Disease Patients","Biobanks, Registries and National Health Records: Modelling a Networking Strategy to Foster Research and Development and to Support the Secondary Use of Data and Samples of Rare Disease Patients: Implementing Dynamic Consent for Rare Disease Patients","ConsDinamico","Inclusion Criteria:\n\n* Patients affected by a rare disease (based on clinical or genetic findings)\n* Patients with a suspect of rare disease (based on clinical or genetic findings)\n\nExclusion Criteria:\n\n* All patients who do not meet the inclusion criteria will be excluded from the study","100 Years",{"count":112,"type":20},50,"The study aims to test on a cohort of rare patients a digital innovative tool to support patients\u002Fparents in the informed consent and assent process and to keep up-to-date a lawful informed and dynamic consent and to use samples and data for research purposes. This will favour their engagement in clinical studies, a step which is well known to be very demanding, particularly in the rare diseases scenario, and stimulate a bidirectional dialogue between researchers and patients\u002Fparents\u002Flegal representatives.",[26],[116,59,117,118,119],"Dynamic Consent","Digital Tool","Informed Consent","Patient Engagement","2026-04-21",{"date":122,"type":37},"2026-04-22",{"date":124,"type":20},"2026-06",{"date":126,"type":20},"2027-02",{"name":128,"class":75},"Istituto Ortopedico Rizzoli",{"id":130,"slug":131,"hasResults":11,"nctId":132,"briefTitle":133,"officialTitle":4,"acronym":4,"eligibilityCriteria":134,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":135,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":137,"conditions":138,"keywords":141,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":147,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":153,"locationsCount":43},"100266136","gene-discovery-core-the-manton-center-100266136","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",{"count":136,"type":20},10000,"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.",[139,26,140],"Undiagnosed Conditions","Orphan Diseases",[142,143,144,145],"Rare","Undiagnosed","Orphan Disease","Genomic Sequencing","2026-03-24",{"date":148,"type":37},"2026-03-25",{"date":150,"type":4},"2010-02",{"date":152,"type":20},"2030-12",{"name":154,"class":75},"Boston Children's Hospital",{"id":156,"slug":157,"hasResults":11,"nctId":158,"briefTitle":159,"officialTitle":160,"acronym":161,"eligibilityCriteria":162,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":163,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":165,"conditions":166,"keywords":167,"overallStatus":66,"whyStopped":4,"lastUpdateSubmitDate":173,"lastUpdatePostDateStruct":174,"startDateStruct":176,"completionDateStruct":178,"leadSponsor":180,"locationsCount":4},"100602942","channelling-algorithm-proficiency-to-understand-recognise-and-elucidate-disease-100602942","NCT07130071","Channelling Algorithm Proficiency To Understand, Recognise and Elucidate Disease","A Pragmatic, Stepped Wedge, Multi-centre, Cluster Randomised Trial Evaluating the Efficiency of Algorithm Technology and Tailored Primary Care Quality Improvement Support to Identify, Diagnose and Refer Patients With Rare and Difficult to Diagnose Disease (Defined by the NHS as Those Suffering From Significant Diagnostic Odyssey)","CAPTURED","Inclusion Criteria:\n\n* General practice in the United Kingdom (England, Scotland, Wales, Northern Ireland) participating in Optimum Patient Care services and contributing deidentified data to OPCRD.\n* At least 1 patient identified as high probability of rare or difficult to diagnose disease by one of the quality improvement program algorithms.\n\nExclusion Criteria:\n\n* General practices hosting or affected by research, or other aspects of care, which might significantly influence the implementation of CAPTURED.",{"count":164,"type":20},500,"Rare diseases affect over 3.5 million people in the UK. It can take years of multiple referrals, inconclusive tests or incorrect diagnoses, for patients to get a final diagnosis. We call this diagnostic odyssey, and GPs are often the first point of call for patients at the start.\n\nAlgorithms can be used to help identify patients with rare diseases faster, who may benefit from testing. They also help healthcare professionals in decision making. Healthcare providers also recognise the value of quality improvement (QI) activities, but practices are often reluctant to participate in non-QOF QI initiatives.\n\nCAPTURED aims to help reduce the diagnostic odyssey patients face by evaluating the efficiency of algorithms and tailored primary care QI support to identify, diagnose and refer patients with rare and difficult to diagnose disease. It will contribute towards these aspects of the UK Rare Disease Framework: (Priority 1) helping patients get a final diagnosis faster; and (Priority 2) increasing awareness of rare diseases among healthcare professionals.\n\nCAPTURED will run as a stepped wedge, cluster randomised trial. Practices are the participants, and not individual patients. Practices will be randomly allocated to undertake quality improvement programmes (QIP) to help evaluate up to 10 rare disease algorithms. Practices will undertake QIPs at specific times, but at the end, all practices would undertake all the QIPs they have at-risk patients for. Practices will invite at-risk patients for testing\u002Fscreening, and refer newly diagnosed patients for appropriate care. Practices will be supported with the QIPs by OPC Quality Improvement and Research Support Service, at no cost to practices.\n\nCAPTURED will run for 5 years and will enrol 500 practices. The trial does not involve any medicine, drug or equipment. The trial will use anonymised patient data collected from all participating practices into the Optimum Patient Care Research Database (OPCRD).",[26],[168,169,170,171,172],"rare disease","rare disorder","difficult to diagnose","quality improvement","algorithm","2025-08-12",{"date":175,"type":37},"2025-08-19",{"date":177,"type":20},"2025-10",{"date":179,"type":20},"2031-10",{"name":181,"class":182},"Research in Real-Life Ltd","NETWORK",{"id":184,"slug":185,"hasResults":11,"nctId":186,"briefTitle":187,"officialTitle":188,"acronym":189,"eligibilityCriteria":190,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":191,"targetDuration":110,"studyType":21,"phases":4,"briefSummary":193,"conditions":194,"keywords":537,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":577,"lastUpdatePostDateStruct":578,"startDateStruct":580,"completionDateStruct":582,"leadSponsor":584,"locationsCount":586},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":192,"type":20},20000,"CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org\u002FCoRDS to enroll.",[26,195,196,197,198,199,200,201,202,203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227,228,229,230,231,232,233,234,235,236,237,238,239,240,241,242,243,244,245,246,247,248,249,250,251,252,253,254,255,256,257,258,259,260,261,262,263,264,265,266,267,268,269,270,271,272,273,274,275,276,277,278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,444,445,446,447,448,449,450,451,452,453,454,455,456,457,458,459,460,461,462,463,464,465,466,467,468,469,470,471,472,473,474,475,476,477,478,479,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495,496,497,498,499,500,501,502,503,504,505,506,507,508,509,510,511,512,513,514,515,516,517,518,519,520,521,522,523,524,525,526,527,528,529,530,531,532,533,534,535,536],"Undiagnosed Disorders","Disorders of Unknown Prevalence","Cornelia De Lange Syndrome","Prenatal Benign Hypophosphatasia","Perinatal Lethal Hypophosphatasia","Odontohypophosphatasia","Adult Hypophosphatasia","Childhood-onset Hypophosphatasia","Infantile Hypophosphatasia","Hypophosphatasia","Kabuki Syndrome","Bohring-Opitz Syndrome","Narcolepsy Without Cataplexy","Narcolepsy-cataplexy","Hypersomnolence Disorder","Idiopathic Hypersomnia Without Long Sleep Time","Idiopathic Hypersomnia With Long Sleep Time","Idiopathic Hypersomnia","Kleine-Levin Syndrome","Kawasaki Disease","Leiomyosarcoma","Leiomyosarcoma of the Corpus Uteri","Leiomyosarcoma of the Cervix Uteri","Leiomyosarcoma of Small Intestine","Acquired Myasthenia Gravis","Addison Disease","Hyperacusis (Hyperacousis)","Juvenile Myasthenia Gravis","Transient Neonatal Myasthenia Gravis","Williams Syndrome","Lyme Disease","Myasthenia Gravis","Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)","Isolated Klippel-Feil Syndrome","Frasier Syndrome","Denys-Drash Syndrome","Beckwith-Wiedemann Syndrome","Emanuel Syndrome","Isolated Aniridia","Axenfeld-Rieger Syndrome","Aniridia-intellectual Disability Syndrome","Aniridia - Renal Agenesis - Psychomotor Retardation","Aniridia - Ptosis - Intellectual Disability - Familial Obesity","Aniridia - Cerebellar Ataxia - Intellectual Disability","Aniridia - Absent Patella","Aniridia","Peters Anomaly - Cataract","Peters Anomaly","Potocki-Shaffer Syndrome","Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11","Silver-Russell Syndrome Due to Imprinting Defect of 11p15","Silver-Russell Syndrome Due to 11p15 Microduplication","Syndromic Aniridia","WAGR Syndrome","Wolf-Hirschhorn Syndrome","4p16.3 Microduplication Syndrome","4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome","Autosomal Recessive Stickler Syndrome","Stickler Syndrome Type 2","Stickler Syndrome Type 1","Stickler Syndrome","Mucolipidosis Type 4","X-linked Spinocerebellar Ataxia Type 4","X-linked Spinocerebellar Ataxia Type 3","X-linked Intellectual Disability - Ataxia - Apraxia","X-linked Progressive Cerebellar Ataxia","X-linked Non Progressive Cerebellar Ataxia","X-linked Cerebellar Ataxia","Vitamin B12 Deficiency Ataxia","Toxic Exposure Ataxia","Unclassified Autosomal Dominant Spinocerebellar Ataxia","Thyroid Antibody Ataxia","Sporadic Adult-onset Ataxia of Unknown Etiology","Spinocerebellar Ataxia With Oculomotor Anomaly","Spinocerebellar Ataxia With Epilepsy","Spinocerebellar Ataxia With Axonal Neuropathy Type 2","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 5","Spinocerebellar Ataxia Type 4","Spinocerebellar Ataxia Type 37","Spinocerebellar Ataxia Type 36","Spinocerebellar Ataxia Type 35","Spinocerebellar Ataxia Type 34","Spinocerebellar Ataxia Type 32","Spinocerebellar Ataxia Type 31","Spinocerebellar Ataxia Type 30","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 29","Spinocerebellar Ataxia Type 28","Spinocerebellar Ataxia Type 27","Spinocerebellar Ataxia Type 26","Spinocerebellar Ataxia Type 25","Spinocerebellar Ataxia Type 23","Spinocerebellar Ataxia Type 22","Spinocerebellar Ataxia Type 21","Spinocerebellar Ataxia Type 20","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 19\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","Spinocerebellar Ataxia Type 14","Spinocerebellar Ataxia Type 13","Spinocerebellar Ataxia Type 12","Spinocerebellar Ataxia Type 11","Spinocerebellar Ataxia Type 10","Spinocerebellar Ataxia Type 1 With Axonal Neuropathy","Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia - Unknown","Spinocerebellar Ataxia - Dysmorphism","Non Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Spasticity-ataxia-gait Anomalies Syndrome","Spastic Ataxia With Congenital Miosis","Spastic Ataxia - Corneal Dystrophy","Spastic Ataxia","Rare Hereditary Ataxia","Rare Ataxia","Recessive Mitochondrial Ataxia Syndrome","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Posterior Column Ataxia - Retinitis Pigmentosa","Post-Stroke Ataxia","Post-Head Injury Ataxia","Post Vaccination Ataxia","Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract","Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus","Non-hereditary Degenerative Ataxia","Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity","Olivopontocerebellar Atrophy - Deafness","NARP Syndrome","Myoclonus - Cerebellar Ataxia - Deafness","Multiple System Atrophy, Parkinsonian Type","Multiple System Atrophy, Cerebellar Type","Multiple System Atrophy","Maternally-inherited Leigh Syndrome","Machado-Joseph Disease Type 3","Machado-Joseph Disease Type 2","Machado-Joseph Disease Type 1","Leigh Syndrome","Late-onset Ataxia With Dementia","Infection or Post Infection Ataxia","GAD Ataxia","Hereditary Episodic Ataxia","Gliadin\u002FGluten Ataxia","Friedreich Ataxia","Fragile X-associated Tremor\u002FAtaxia Syndrome","Familial Paroxysmal Ataxia","Exposure to Medications Ataxia","Episodic Ataxia With Slurred Speech","Episodic Ataxia Unknown Type","Episodic Ataxia Type 7","Episodic Ataxia Type 6","Episodic Ataxia Type 5","Episodic Ataxia Type 4","Episodic Ataxia Type 3","Episodic Ataxia Type 1","Epilepsy and\u002For Ataxia With Myoclonus as Major Feature","Early-onset Spastic Ataxia-neuropathy Syndrome","Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity","Early-onset Cerebellar Ataxia With Retained Tendon Reflexes","Early-onset Ataxia With Dementia","Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia","Dilated Cardiomyopathy With Ataxia","Cataract - Ataxia - Deafness","Cerebellar Ataxia, Cayman Type","Cerebellar Ataxia With Peripheral Neuropathy","Cerebellar Ataxia - Hypogonadism","Cerebellar Ataxia - Ectodermal Dysplasia","Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss","Brain Tumor Ataxia","Brachydactyly - Nystagmus - Cerebellar Ataxia","Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia","Autosomal Recessive Syndromic Cerebellar Ataxia","Autosomal Recessive Spastic Ataxia With Leukoencephalopathy","Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria","Autosomal Recessive Spastic Ataxia","Autosomal Recessive Metabolic Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine","Autosomal Recessive Ataxia, Beauce Type","Autosomal Recessive Ataxia Due to Ubiquinone Deficiency","Autosomal Recessive Ataxia Due to PEX10 Deficiency","Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia","Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia","Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome","Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity","Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency","Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect","Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion","Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation","Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness","Autosomal Recessive Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly","Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation","Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy","Autosomal Dominant Spastic Ataxia Type 1","Autosomal Dominant Spastic Ataxia","Autosomal Dominant Optic Atrophy","Ataxia-telangiectasia Variant","Ataxia-telangiectasia","Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy","Autosomal Dominant Cerebellar Ataxia Type 4","Autosomal Dominant Cerebellar Ataxia Type 3","Autosomal Dominant Cerebellar Ataxia Type 2","Autosomal Dominant Cerebellar Ataxia Type 1","Autosomal Dominant Cerebellar Ataxia","Ataxia-telangiectasia-like Disorder","Ataxia With Vitamin E Deficiency","Ataxia With Dementia","Ataxia - Oculomotor Apraxia Type 1","Ataxia - Other","Ataxia - Genetic Diagnosis - Unknown","Acquired Ataxia","Adult-onset Autosomal Recessive Cerebellar Ataxia","Alcohol Related Ataxia","Multiple Endocrine Neoplasia","Multiple Endocrine Neoplasia Type II","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia, Type IV","Multiple Endocrine Neoplasia, Type 3","Multiple Endocrine Neoplasia (MEN) Syndrome","Multiple Endocrine Neoplasia Type 2B","Multiple Endocrine Neoplasia Type 2A","Atypical Hemolytic Uremic Syndrome","Atypical HUS","Wiedemann-Steiner Syndrome","Breast Implant-Associated Anaplastic Large Cell Lymphoma","Autoimmune\u002FInflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis","Behcet's Disease","Alagille Syndrome","Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)","Lowe Syndrome","Pitt Hopkins Syndrome","1p36 Deletion Syndrome","Jansen Type Metaphyseal Chondrodysplasia","Cockayne Syndrome","Chronic Recurrent Multifocal Osteomyelitis","CRMO","Malan Syndrome","Hereditary Sensory and Autonomic Neuropathy Type Ie","VCP Disease","Hypnic Jerking","Sleep Myoclonus","Mollaret Meningitis","Recurrent Viral Meningitis","CRB1","Leber Congenital Amaurosis","Retinitis Pigmentosa","Rare Retinal Disorder","KCNMA1-Channelopathy","Primary Biliary Cirrhosis","ZMYND11","Transient Global Amnesia","Glycogen Storage Disease","Alstrom Syndrome","White Sutton Syndrome","DNM1","EIEE31","Myhre Syndrome","Recurrent Respiratory Papillomatosis","Laryngeal Papillomatosis","Tracheal Papillomatosis","Refsum Disease","Nicolaides Baraitser Syndrome","Leukodystrophy","Tango2","Cauda Equina Syndrome","Rare Gastrointestinal Disorders","Achalasia-Addisonian Syndrome","Achalasia Cardia","Achalasia Icrocephaly Syndrome","Anal Fistula","Congenital Sucrase-Isomaltase Deficiency","Eosinophilic Gastroenteritis","Idiopathic Gastroparesis","Hirschsprung Disease","Rare Inflammatory Bowel Disease","Intestinal Pseudo-Obstruction","Scleroderma","Short Bowel Syndrome","Sacral Agenesis","Sacral Agenesis Syndrome","Caudal Regression","Scheuermann Disease","SMC1A Truncated Mutations (Causing Loss of Gene Function)","Cystinosis","Juvenile Nephropathic Cystinosis","Nephropathic Cystinosis","Kennedy Disease","Spinal Bulbar Muscular Atrophy","Warburg Micro Syndrome","Mucolipidoses","Mitochondrial Diseases","Mitochondrial Aminoacyl-tRNA Synthetases","Mt-aaRS Disorders","Hypertrophic Olivary Degeneration","Non-Ketotic Hyperglycinemia","Fish Odor Syndrome","Halitosis","Isolated Congenital Asplenia","Lambert Eaton (LEMS)","Biliary Atresia","STAG1 Gene Mutation","Coffin Lowry Syndrome","Borjeson-Forssman-Lehman Syndrome","Blau Syndrome","Arginase 1 Deficiency","HSPB8 Myopathy","Beta-Mannosidosis","TBX4 Syndrome","DHDDS Gene Mutations","MAND-MBD5-Associated Neurodevelopmental Disorder","Constitutional Mismatch Repair Deficiency (CMMRD)","SPATA5 Disorder","SPATA5L1 Related Disorder","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[59,538,140,539,540,248,541,542,255,543,214,544,545,546,418,427,143,547,205,548,549,213,550,215,551,204,552,553,430,554,555,433,434,556,436,437,557,558,440,559,560,561,490,562,563,564,565,566,567,568,495,569,570,571,500,501,572,573,574,575,576],"Neglected Diseases","Rare Disease Research","Registries","Ataxia","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Batten Disease","Mucolipidosis IV","Klippel-Feil Syndrome","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","Juvenile nephropathic cystinosis","Nephropathic infantile cystinosis","Ocular cystinosis","Kennedy disease","Spinal Bulbar Muscular Atrophy (SBMA)","SMC1A Truncated Mutations (causing loss of gene function)","Leigh syndrome","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":579,"type":37},"2025-05-29",{"date":581,"type":37},"2010-07",{"date":583,"type":20},"2100-12",{"name":585,"class":75},"Sanford Health",2,{"id":588,"slug":589,"hasResults":11,"nctId":590,"briefTitle":591,"officialTitle":592,"acronym":4,"eligibilityCriteria":593,"healthyVolunteers":11,"sex":15,"minAge":594,"maxAge":595,"enrollmentInfo":596,"targetDuration":4,"studyType":54,"phases":598,"briefSummary":599,"conditions":600,"keywords":603,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":612,"lastUpdatePostDateStruct":613,"startDateStruct":615,"completionDateStruct":617,"leadSponsor":618,"locationsCount":620},"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":597,"type":20},100,[56],"\"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.",[140,26,601,602],"Pediatric Diseases","Inborn Errors of Metabolism Disorders",[604,605,606,607,608,609,610,611],"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":614,"type":37},"2025-05-13",{"date":616,"type":37},"2024-12-15",{"date":72,"type":20},{"name":619,"class":75},"Medical University of Vienna",7]