[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rare-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rare-diseases":27},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,40,0,25,[9,48,60,85,113,145,169,192,222,245,276,303,325,356,388,417,443,468,519,542,567,590,634,661,682],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":15,"acronym":4,"eligibilityCriteria":16,"healthyVolunteers":12,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":28,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":47},"100054014","genetic-analysis-of-uncommon-disease-presentations-in-non-us-populations-100054014",false,"NCT06595940","Genetic Analysis of Uncommon Disease Presentations in Non-US Populations","Genomic Sequencing for Evaluation of Uncommon Disease Manifestations Through the Childhood Complex Disease Genomic Section","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Stated willingness to comply with all study procedures and availability for the duration of the study.\n2. Probands aged \\>2 years at enrollment or first-degree relatives of probands (age \\>2 years).\n3. Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present.\n4. Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation.\n5. Ability of participant and their parent or guardian to understand and have willingness to sign a written informed consent and\u002For assent document.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Anyone unwilling to provide informed consent (for themselves as adults, on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.\n2. Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive.\n3. Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause.\n4. In the opinion of the investigator, participant has a condition that would preclude participation in the study by interfering with the participant s ability to engage in the required protocol evaluation and testing.","ALL","2 Years","100 Years",{"count":21,"type":22},400,"ESTIMATED","OBSERVATIONAL","Background:\n\nGenetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.\n\nObjective:\n\nTo look for potential genetic sources of diseases among children and their families.\n\nEligibility:\n\nChildren aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.\n\nDesign:\n\nParticipants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.",[26,27],"Undiagnosed Diseases","Rare Diseases",[29,30,31,32,33,34],"Genetics","Genomic sequencing","Under-represented populations","Medical genetics","Clinical Phenotype","Uncommon disease","RECRUITING","2026-07-10",{"date":38,"type":39},"2026-07-13","ACTUAL",{"date":41,"type":22},"2026-07-16",{"date":43,"type":22},"2034-08-21",{"name":45,"class":46},"National Human Genome Research Institute (NHGRI)","NIH",1,{"id":49,"slug":4,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":15,"acronym":4,"eligibilityCriteria":16,"healthyVolunteers":12,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":50,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":51,"keywords":52,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":53,"lastUpdatePostDateStruct":54,"startDateStruct":56,"completionDateStruct":58,"leadSponsor":59,"locationsCount":47},"100561882",{"count":21,"type":22},[26,27],[29,30,31,32,33,34],"2026-07-01",{"date":55,"type":39},"2026-07-02",{"date":57,"type":22},"2026-07-07",{"date":43,"type":22},{"name":45,"class":46},{"id":61,"slug":62,"hasResults":12,"nctId":63,"briefTitle":64,"officialTitle":64,"acronym":65,"eligibilityCriteria":66,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":67,"targetDuration":4,"studyType":69,"phases":70,"briefSummary":72,"conditions":73,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":47},"100477601","functional-study-to-indentify-genetic-etiology-of-rare-diseases---origin-100477601","NCT05499091","Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN","ORIGIN","Inclusion Criteria:\n\nPatient :\n\n* Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.\n* Patient Affiliated to the French social security system.\n* Patient consent form or legal representative consent form obtained.\n\nPatient's parent :\n\n* Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Parent included in the BaMaRa database.\n* Parent affiliated to the French social security system.\n* Parent consent form obtained for himself\u002Fherself.\n\nPatient's brother or sister :\n\n* Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.\n* Brother or sister included in the BaMaRa database.\n* Brother or sister affiliated to the French social security system.\n* Brother or sister consent form obtained for themselves or from their legal representative.\n\nExclusion Criteria:\n\n* Poor understanding of the French language\n* Legal of administrative liberty deprivation\n* Psychiatric force care",{"count":68,"type":22},1200,"INTERVENTIONAL",[71],"NA","Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.",[27,74],"Genetic Disease","2026-06-25",{"date":77,"type":39},"2026-06-29",{"date":79,"type":39},"2022-10-10",{"date":81,"type":22},"2045-10-10",{"name":83,"class":84},"University Hospital, Angers","OTHER_GOV",{"id":86,"slug":87,"hasResults":12,"nctId":88,"briefTitle":89,"officialTitle":90,"acronym":4,"eligibilityCriteria":91,"healthyVolunteers":92,"sex":17,"minAge":93,"maxAge":19,"enrollmentInfo":94,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":96,"conditions":97,"keywords":100,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":106,"lastUpdatePostDateStruct":107,"startDateStruct":108,"completionDateStruct":110,"leadSponsor":112,"locationsCount":47},"100351322","longitudinal-studies-of-patient-with-fpdmm-100351322","NCT03854318","Longitudinal Studies of Patient With FPDMM","Longitudinal Studies of Patients and Families With Familial Platelet Disorders With Associated Myeloid Malignancy (FPDMM) Caused by RUNX1 Germline Variants or FPDMM-Like Conditions","* INCLUSION CRITIERIA:\n\nPatients enrolled in this protocol will have been referred with a known or suspected variant in the RUNX1 gene. Patients with suspected RUNX1 variants are those with clinical features of FPD but who have not been tested for RUNX1, or who were negative on standard testing. The Principal Investigator, along with consulting specialists, will review the medical records of prospective patients and offer enrollment based upon the potential to help the individual, to learn from the patient, or to initiate clinical or basic research suggested by the patient's workup. Persons interested in participation may be given a screening questionnaire to determine eligibility. The questions about hematologic manifestations in the screening questionnaire are important to help us determine if RUNX1 variants are likely to be pathogenic, or if there is a high clinical suspicion of RUNX1 (abnormal platelets, bleeding, bruising, leukemia etc.). Unaffected family members may be asked to enroll in the study to provide specimens (saliva, blood, skin) for genetic testing, next-generation sequencing, and other related studies. Enrolled subjects can be any sex and any age. There are no upper or lower age restrictions on this study.\n\nEXCLUSION CRITIERIA:\n\nThere are no exclusionary criteria.",true,"1 Day",{"count":95,"type":22},1000,"Background:\n\nGenes tell the body and its cells how to work. Familial platelet disease (FPD) or FPD with associated malignancies (FPDMM) is caused by a variant in the gene RUNX1. People with this disease may have problems with their blood and bleed for a long time when they are injured. Researchers want to learn more about RUNX1 variants and FPD.\n\nObjective:\n\nTo learn more about FPD in people with RUNX1 variants to lead to better diagnosis, monitoring, and treatment.\n\nEligibility:\n\nPeople any age with a suspected or confirmed RUNX1 variant\n\nPeople who have a family member with the variant\n\nDesign:\n\nAll participants will be screened with a phone call and a blood, saliva, or cheek cell sample.\n\nParticipants with a suspected or confirmed variant will have 1 visit. It will last about 2 days. They will then have visits at least once a year.\n\nVisits will include:\n\n* Medical history and physical exam\n* Blood tests or saliva sample\n* Possible skin biopsy: A small piece of the participant s skin will be removed.\n* Bone marrow aspiration or biopsy: The participant s bone marrow will be removed by needle from a large bone such as the hip bone.\n* Possible apheresis: Blood will be removed from the body and certain blood cells will be taken out. The rest of the blood is returned to the body.\n\nBetween visits, participants with a suspected or confirmed variant will keep a diary of disease symptoms and signs.\n\nSamples from all participants may be used for genetic testing",[98,27,99],"Inherited Hematological Diseases","FPDMM",[101,27,102,103,104,105],"inherited hematological diseases","Hematological Malignancies","Cancer","Acute Myeloid Leukemia","Natural History","2026-06-24",{"date":75,"type":39},{"date":109,"type":39},"2019-03-28",{"date":111,"type":22},"2028-12-31",{"name":45,"class":46},{"id":114,"slug":115,"hasResults":12,"nctId":116,"briefTitle":117,"officialTitle":118,"acronym":4,"eligibilityCriteria":119,"healthyVolunteers":12,"sex":17,"minAge":120,"maxAge":4,"enrollmentInfo":121,"targetDuration":4,"studyType":69,"phases":123,"briefSummary":124,"conditions":125,"keywords":127,"overallStatus":133,"whyStopped":4,"lastUpdateSubmitDate":134,"lastUpdatePostDateStruct":135,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":144},"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":122,"type":22},1055,[71],"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.",[126,27],"Rare Disorders",[128,129,130,131,132],"rare diseases","AI","LLM","diagnosis","cost-effectiveness","NOT_YET_RECRUITING","2026-06-14",{"date":136,"type":39},"2026-06-16",{"date":138,"type":22},"2026-06-20",{"date":140,"type":22},"2027-12-01",{"name":142,"class":143},"Peking Union Medical College Hospital","OTHER",13,{"id":146,"slug":147,"hasResults":12,"nctId":148,"briefTitle":149,"officialTitle":150,"acronym":4,"eligibilityCriteria":151,"healthyVolunteers":12,"sex":17,"minAge":152,"maxAge":4,"enrollmentInfo":153,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":155,"conditions":156,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":158,"lastUpdatePostDateStruct":159,"startDateStruct":161,"completionDateStruct":163,"leadSponsor":165,"locationsCount":168},"100611953","epidemiological-study-of-treatment-approaches-in-achr-antibody-positive-generalized-myasthenia-gravis-in-russia-100611953","NCT07247279","Epidemiological Study of Treatment Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis in Russia","A Multicenter Non Interventional Single Arm Retrospective-prospective Observational Study in Therapeutic Approaches in AChR-Antibody Positive Generalized Myasthenia Gravis (gMG) in Real Clinical Practice in Russia","Inclusion Criteria:\n\n1. Adults (≥18 years) diagnosed with generalized MG positive for acetylcholine receptor (AChR) antibodies.\n2. Provision of signed and dated written informed consent.\n\nExclusion Criteria:\n\n1. Participants currently enrolled in clinical studies for treatment of gMG.\n2. Ocular MG only.","18 Years",{"count":154,"type":22},450,"This is a multicenter, non-interventional, retrospective-prospective, single-arm observational study designed to describe real-world treatment approaches and clinical outcomes among adults with acetylcholine receptor (AChR) antibody-positive generalized myasthenia gravis (gMG) in routine clinical practice in Russia.",[27,157],"Generalized Myasthenia Gravis (gMG)","2026-06-12",{"date":160,"type":39},"2026-06-15",{"date":162,"type":39},"2025-12-23",{"date":164,"type":22},"2029-12-31",{"name":166,"class":167},"AstraZeneca","INDUSTRY",6,{"id":170,"slug":171,"hasResults":12,"nctId":172,"briefTitle":173,"officialTitle":174,"acronym":4,"eligibilityCriteria":175,"healthyVolunteers":92,"sex":17,"minAge":152,"maxAge":4,"enrollmentInfo":176,"targetDuration":4,"studyType":69,"phases":178,"briefSummary":179,"conditions":180,"keywords":181,"overallStatus":133,"whyStopped":4,"lastUpdateSubmitDate":185,"lastUpdatePostDateStruct":186,"startDateStruct":188,"completionDateStruct":189,"leadSponsor":191,"locationsCount":144},"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.",{"count":177,"type":22},150,[71],"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.",[126,27],[27,182,183,184],"Artificial Intelligence","Clinical Decision Support System (CDSS)","Diagnosis","2026-06-03",{"date":187,"type":39},"2026-06-04",{"date":138,"type":22},{"date":190,"type":22},"2027-06-01",{"name":142,"class":143},{"id":193,"slug":194,"hasResults":12,"nctId":195,"briefTitle":196,"officialTitle":197,"acronym":198,"eligibilityCriteria":199,"healthyVolunteers":12,"sex":17,"minAge":120,"maxAge":200,"enrollmentInfo":201,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":203,"conditions":204,"keywords":211,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":214,"lastUpdatePostDateStruct":215,"startDateStruct":216,"completionDateStruct":218,"leadSponsor":220,"locationsCount":47},"100546822","baker-gordon-syndrome-natural-history-study-100546822","NCT06399952","Baker Gordon Syndrome Natural History Study","A Prospective, Longitudinal and Observational Natural History Study for Children and Adults With Baker Gordon Syndrome - Genetic Autism Alliance","BAGOS","Inclusion Criteria:\n\n* Genetically confirmed diagnosis of Baker Gordon syndrome.\n* 0-99 years\n* Ability to send medical records and diagnostic test results.\n* Ability to complete tests and questionnaires.\n\nExclusion Criteria:\n\n• The presence of another condition or co-morbidity unrelated to Baker Gordon syndrome, that affects neurodevelopment.\n\nIn this study, the primary caregivers\u002FLAR for each participant diagnosed Baker Gordon Syndrome will be also considered participants.\n\nCaregivers\u002FLAR will have to meet the following inclusion criteria:\n\n* \\>18 years.\n* Legal caregiver of the patient diagnosed with a Baker Gordon Syndrome.\n* Willingness to follow study procedures, as assessed by the research team.\n* Willingness to sign the consent form.\n* Ability to understand all the information regarding the study, as assessed by the research team.\n\nCaregivers\u002FLAR Exclusion Criteria:\n\n• Less than 18 years old.","99 Years",{"count":202,"type":22},50,"The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). This will be performed by acquiring baseline measurements and developing effective outcome measures and diagnostic tools for the disorder, to prepare the healthcare system for future clinical trials.",[27,205,206,207,208,209,210],"Autism or Autistic Traits","Development Delay","SYT-SSX Fusion Protein Expression","Sleep Disorder","Epilepsy, Generalized","Motor Delay",[212,198,213],"Baker Gordon Syndrome","Synaptotagmin 1-Associated Neurodevelopmental Disorder","2026-06-01",{"date":185,"type":39},{"date":217,"type":39},"2024-04-30",{"date":219,"type":22},"2027-05-05",{"name":221,"class":143},"University of Missouri-Columbia",{"id":223,"slug":224,"hasResults":12,"nctId":225,"briefTitle":226,"officialTitle":226,"acronym":4,"eligibilityCriteria":227,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":19,"enrollmentInfo":228,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":229,"conditions":230,"keywords":232,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":236,"lastUpdatePostDateStruct":237,"startDateStruct":239,"completionDateStruct":241,"leadSponsor":243,"locationsCount":47},"100407488","uw-undiagnosed-genetic-diseases-program-100407488","NCT04586075","UW Undiagnosed Genetic Diseases Program","Inclusion Criteria:\n\n* The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing).\n* The applicant has at least one objective finding that is likely to have an identifiable genetic etiology.\n* The applicant likely has a currently undescribed\u002Fnew genetic condition or a known genetic condition associated with a novel gene.\n* The applicant\u002Flegal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP)\n* The applicant\u002Flegal guardian agrees to receive secondary findings from genetic testing.\n* The applicant\u002Flegal guardian has sufficient proficiency in English to understand the consent.\n\nExclusion Criteria:\n\n* The applicant already has a diagnosis that explains the objective findings.\n* A specific diagnosis is suspected and a standard clinical workup performed by the referring\u002Fprimary care provider would be appropriate.\n* The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received.\n* The applicant's symptoms are likely multifactorial or due to a non-genetic cause.",{"count":95,"type":22},"The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited.",[27,74,231],"Undiagnosed Disease",[233,234,235],"genomics","genome sequencing","undiagnosed disease","2026-05-28",{"date":238,"type":39},"2026-05-29",{"date":240,"type":39},"2021-07-16",{"date":242,"type":22},"2030-10",{"name":244,"class":143},"University of Wisconsin, Madison",{"id":246,"slug":247,"hasResults":12,"nctId":248,"briefTitle":249,"officialTitle":250,"acronym":251,"eligibilityCriteria":252,"healthyVolunteers":12,"sex":17,"minAge":253,"maxAge":254,"enrollmentInfo":255,"targetDuration":4,"studyType":69,"phases":257,"briefSummary":258,"conditions":259,"keywords":261,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":266,"lastUpdatePostDateStruct":267,"startDateStruct":269,"completionDateStruct":271,"leadSponsor":273,"locationsCount":275},"100395488","intact-cord-resuscitation-in-cdh-100395488","NCT04429750","Intact Cord Resuscitation in CDH","Efficacy of Intact Cord Resuscitation Compared to Immediate Cord Clamping on Cardiorespiratory Adaptation at Birth in Infants With Isolated Congenital Diaphragmatic Hernia (CDH)","CHIC","Inclusion Criteria:\n\n* Antenatal diagnosis of CDH\n* No severe additional malformation or chromosomal diseases\n* Full term (\\>36 weeks gestational age)\n* No inclusion in another antenatal trial\n* Written informed consents from the parents\n\nExclusion Criteria:\n\n* Preterm birth less than 37 weeks gestational age\n* Other severe malformation(s) or chromosomal diseases\n* Twin\n* Parents who may have French language understanding difficulties may not participate to the study unless they receive appropriate assistance regarding the understanding of the formal consent forms needed to get included in the study. If included in the study, regarding their French understanding level, the parents may not be proposed the auto questionnaires and interviews led by the psychologist","36 Weeks","37 Weeks",{"count":256,"type":22},180,[71],"Isolated CDH is a rare disease (1\u002F3500) and displays a wide range of severity and outcome. Despite attempts to standardize the management of this disease at birth and during the first months of life, the mortality varies from 20 to 50% according to different hospitals in France and abroad.\n\nSeveral studies already showed the benefice of late cord clamping at birth on biological and physiological adaptation of newborns to life. Previous works also suggest a possible benefit of this procedure for babies with CDH.\n\nThis multicenter randomized clinical study aims to investigate the efficacy of intact cord resuscitation compared to immediate cord clamping on cardiorespiratory adaptation at birth in full term newborn infants with isolated CDH.",[27,260],"Congenital Diaphragmatic Hernia",[262,263,264,265],"Congenital diaphragmatic hernia","resuscitation","delayed cord clamping","newborn","2026-05-19",{"date":268,"type":39},"2026-05-20",{"date":270,"type":39},"2020-10-08",{"date":272,"type":22},"2026-10",{"name":274,"class":143},"University Hospital, Lille",3,{"id":277,"slug":278,"hasResults":12,"nctId":279,"briefTitle":280,"officialTitle":281,"acronym":282,"eligibilityCriteria":283,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":284,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":286,"conditions":287,"keywords":289,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":294,"lastUpdatePostDateStruct":295,"startDateStruct":297,"completionDateStruct":299,"leadSponsor":301,"locationsCount":47},"100418680","diagnostic-value-of-exome-genome-sequencing-conventional-methods-in-rare-diseases-and-familial-tumor-syndromes-100418680","NCT04731857","Diagnostic Value of Exome\u002F Genome Sequencing, Conventional Methods in Rare Diseases and Familial Tumor Syndromes","Diagnostic Value of Exome and Genome Sequencing as Well as Conventional Methods in Rare Diseases and Familial Tumor Syndromes","EXGEFATU","Inclusion Criteria:\n\n* Patient with genetic disease or\n* Family members\n* Genetic analysis between 10\u002F2016 and 12\u002F2020 at the Institute for Medical Genetics and Applied Genomics at the University Hospital Tübingen\n\nExclusion Criteria:\n\n\\- None",{"count":285,"type":22},12000,"For the retrospective data analysis, patients with genetic diseases of any age and, if available, other family members, for whom genetic analyzes were carried out between 10\u002F2016 and 12\u002F2020, should be included. This equates to approximately 13,000 records, minus combined analyzes in the same patient, an estimated 12,000 individuals.",[27,288],"Genetic Predisposition",[27,288,290,291,292,293],"Next Generation Sequencing (NGS)","Polygenic risk scores (PRSs)","Repeat-Expansion","Genetic variation","2026-04-28",{"date":296,"type":39},"2026-05-04",{"date":298,"type":39},"2021-02-18",{"date":300,"type":22},"2031-02",{"name":302,"class":143},"University Hospital Tuebingen",{"id":304,"slug":305,"hasResults":12,"nctId":306,"briefTitle":307,"officialTitle":307,"acronym":308,"eligibilityCriteria":309,"healthyVolunteers":12,"sex":17,"minAge":310,"maxAge":311,"enrollmentInfo":312,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":314,"conditions":315,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":316,"lastUpdatePostDateStruct":317,"startDateStruct":319,"completionDateStruct":321,"leadSponsor":323,"locationsCount":47},"100633510","evaluation-of-socio-professional-inclusion-for-young-adults-aged-15-25-living-with-a-rare-genetic-disability-100633510","NCT07527624","Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability","ImagineLaSuite","Inclusion Criteria:\n\n* Current age 15-25 years born between 1997 and 2007\n* Rare genetic disease confirmed by a genetic test, originating in childhood and followed at Necker in the networks of the following disease reference centers:\n\n  * epilepsy without deficiency ;\n  * genodermatosis ;\n  * constitutional bone diseases ;\n  * craniofacial malformations;\n  * deafness;\n\nExclusion Criteria:\n\n* Patient or parent's opposition to study participation\n* Patient with intellectual disability (IQ \\\u003C 70)\n* Patients with pathologies involving intellectual disability and patients with a clinical sign of intellectual disability.","15 Years","25 Years",{"count":313,"type":22},300,"Rare diseases are often synonymous with difficulties for sufferers, whether physical, mental or social. Patients suffering from rare diseases face specific problems, such as the long wait for a diagnosis, the geographical distance between the rare disease reference center and home, and the isolation created by this very disabling disease... Children suffering from rare genetic diseases have difficulty accessing higher education, but above all in finding an internship or work-study placement, due to the rarity of their disability.\n\nThe aim of this study, entitled \"Imagine La Suite\", is to assess the difficulties encountered by young people with rare genetic diseases and disabilities in their search for vocational and university training or employment.",[27],"2026-04-07",{"date":318,"type":39},"2026-04-14",{"date":320,"type":39},"2024-01-08",{"date":322,"type":22},"2026-08-08",{"name":324,"class":143},"Imagine Institute",{"id":326,"slug":327,"hasResults":12,"nctId":328,"briefTitle":329,"officialTitle":329,"acronym":330,"eligibilityCriteria":331,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":332,"targetDuration":4,"studyType":69,"phases":334,"briefSummary":335,"conditions":336,"keywords":342,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":346,"lastUpdatePostDateStruct":347,"startDateStruct":349,"completionDateStruct":351,"leadSponsor":353,"locationsCount":355},"100581945","behavioral-and-adherence-model-for-improving-quality-health-outcomes-and-cost-effectiveness-of-healthcare-100581945","NCT06856902","BEhavioral and Adherence Model for Improving Quality, Health Outcomes and Cost-Effectiveness of healthcaRe","BEAMER","Inclusion Criteria:\n\n* Having the diagnosis of the pilot sites target groups described above as per clinical assessment or validated diagnosis criteria\n* Having the age of the pilot sites target groups described above\n* Having accepted to participate in the study and provided written informed consent\n* Having the availability to participate on all study activities\n\nExclusion Criteria:\n\n* Individuals that do not fulfil ALL the inclusion criteria will be excluded to participate.",{"count":333,"type":22},3100,[71],"Lack of adherence to treatment is a widespread issue worldwide, which leads to higher healthcare utilisation rates and even premature death. While the level of adherence may differ based on the specific condition and treatment, studies estimate that approximately 50% of medications are not taken according to the prescribed instructions. In addition, adherence rates tend to decrease even further when the treatment requires a behavioural change. Literature reviews about factors that affect people's adherence show that it is challenging to predict whom can be considered to have adherent and non-adherent behaviours. In addition, the studies highlight that it is challenging to support a person to be adherent. Based on this knowledge the BEAMER project was established (Behavioural and Adherence Model for improving quality, health outcomes and cost-Effectiveness of healthcaRe). The overall goal of the project is to improve the quality of life of individuals, enhance healthcare accessibility and sustainability, thereby transforming the way healthcare stakeholders engage with patients to understand their condition and adherence levels throughout their healthcare journey. To address the overall goal, the BEAMER project has developed a disease agnostic model named \"B-COMPASS: BEAMER-COmputational Model for Patient Adherence and Support Solutions\". The aim of the B-COMPASS is to identify patients' needs and preferences which enables the creation of patient-specific supports, with the intention of improving their adherence to treatment within the heterogeneity of the different disease-areas and healthcare contexts. Based on the validated BEAMER questionnaire, the B-COMPASS predicts relative adherence and offers an elicitation process of patient needs and preferences to enable targeted supports to improve patient adherence. This results in an allocation of patients to different groups based on their needs and preferences. Overall, the B-COMPASS provides patient insights that will enable more effective design of patient support, most likely resulting in better patient experience, improved adherence and lower healthcare and societal costs.\n\nSo far, several activities from a technical and user perspective have already been conducted in the project to refine the B-COMPASS. This has been done by applying an iterative mixed method approach were both stakeholders (regulator, pharma, academic\u002Fresearch and small and medium-sized enterprises) and end users (patients, health providers and health systems) have been involved. Despite the finetuning of the B-COMPASS, the effectiveness of the B-COMPASS hinges on empirical investigations into the structural elements that impact patient behaviour and the identification of predictive factors that can assist healthcare providers' (HCP) and Research Leads in designing more effective treatment plans (the term HCPs\u002FResearch Lead include both the individuals and the institutions where care is delivered). Therefore, validation studies will be conducted to assess the B-COMPASS's performance in six therapeutic areas (cardiovascular, endocrinology, immunology, neurology, oncology and rare diseases) with patients recruited in at least Italy (FISM), Portugal (APDP and MEDIDA) Norway (AHUS), Spain (FHUNJ and FIIBAP), The Netherlands (WDO), and Germany (UDUS). The collected data will be used to evaluate the B-COMPASS's capacity to attend to a variety of needs and challenges for adherence.",[337,338,339,340,341,27],"Cardiovascular Diseases","Endocrinology","Inmunology","Neurology","Oncology",[343,344,345],"Digital health","adherence to treatment","healthcare","2026-03-26",{"date":348,"type":39},"2026-04-01",{"date":350,"type":39},"2025-03-01",{"date":352,"type":22},"2026-09-30",{"name":354,"class":143},"Technical University of Madrid",10,{"id":357,"slug":358,"hasResults":12,"nctId":359,"briefTitle":360,"officialTitle":361,"acronym":362,"eligibilityCriteria":363,"healthyVolunteers":12,"sex":17,"minAge":364,"maxAge":152,"enrollmentInfo":365,"targetDuration":367,"studyType":23,"phases":4,"briefSummary":368,"conditions":369,"keywords":370,"overallStatus":133,"whyStopped":4,"lastUpdateSubmitDate":380,"lastUpdatePostDateStruct":381,"startDateStruct":383,"completionDateStruct":384,"leadSponsor":386,"locationsCount":47},"100631200","a-longitudinal-study-on-family-adaptation-and-relationship-dynamics-in-pediatric-rare-diseases-100631200","NCT07497581","A Longitudinal Study on Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases","Family Adaptation and Relationship Dynamics in Pediatric Rare Diseases.","FAIR","Inclusion Criteria:\n\nFor children and adolescents:\n\n* Diagnosed with an RD listed in Table 2.\n* Age between 8 and 18 years.\n* Sufficient knowledge of the German language.\n* Declaration of informed consent must be signed by at least one legal guardian for all participants under 18; adolescents aged 14 - 17 additionally provide their own written consent.\n* Lives at home (defined as sleeping inside of the home for more than four days per week, including weekends).\n\nFor parents:\n\n* The child is affected by an RD listed in Table 2.\n* The child's age is between 1 and 18 years.\n* Sufficient knowledge of the German or English language.\n* Availability of the signed declaration of informed consent.\n* Only one child with a diagnosed RD.\n* Up to two caregivers may participate per child. A stepparent may be included if they reside with the child, defined as spending at least three nights per week (including weekends) in the same household.\n* Requirement ESM: Child lives at home (defined as sleeping inside of the home for more than four days per week, including weekends).\n\nExclusion Criteria:\n\nFor children and adolescents:\n\n* The child is affected by an RD other than listed in Table 2.\n* Age under 8 or over 18 years.\n* Not sufficient knowledge of the German language.\n* Lack of informed consent from at least one legal guardian (required for all participants under 18); and, for adolescents aged 14 - 17, absence of adolescent's own written consent.\n* Lives outside of the home (defined as sleeping outside of the home for more than three days per week, including weekends).\n* Cognitive impairment.\n\nFor parents:\n\n* The child is affected by an RD other than listed in Table 2.\n* The child's age is under 1 or over 18 years.\n* Not sufficient knowledge of the German nor English language.\n* Declaration of informed consent not signed.\n* More than one child with a diagnosed RD.\n* Requirement ESM: Child lives outside of the home (defined as sleeping outside of the home for more than three days per week, including weekends).","1 Year",{"count":366,"type":22},240,"12 Months","Rare diseases in children can affect not only the child's health but also the well-being and relationships within the entire family. Parents often experience stress, uncertainty, and emotional strain, which may in turn influence their child's mental health and quality of life. However, little is known about how families adapt over time to living with a rare disease or how daily experiences and family interactions shape this process.\n\nThis study aims to better understand how children with rare diseases and their caregivers adjust psychologically and emotionally over time. It will examine how factors such as parental stress, uncertainty, coping strategies, and family communication are linked to the mental health and quality of life of both children and parents.\n\nThe study will include children and adolescents (ages 1-18) with a diagnosed rare disease and their caregivers. Participants will complete online questionnaires at four time points over one year. A subgroup of families will also take part in a two-week smartphone-based assessment, where parents report their daily experiences, such as stress, emotions, and worries, several times per day. Some children and adolescents will additionally participate in interviews to share their own perspectives.\n\nThe main outcomes of interest are the child's mental health and quality of life. The study will also assess parental well-being and family functioning to understand how these factors influence each other over time.\n\nBy combining long-term and daily data, this study will provide a detailed picture of how families cope with rare diseases in everyday life. The findings may help improve psychological support and guide the development of targeted interventions for families affected by rare pediatric conditions.",[27],[128,371,372,373,374,375,376,377,378,379],"family adaptation","family functioning","psychological adjustment","psychosocial adjustment","quality of life","longitudinal study","caregiver experience","ecological momentary assessment","children and adolescents","2026-03-23",{"date":382,"type":39},"2026-03-27",{"date":348,"type":22},{"date":385,"type":22},"2031-04-01",{"name":387,"class":143},"Markus A. Landolt",{"id":389,"slug":390,"hasResults":12,"nctId":391,"briefTitle":392,"officialTitle":393,"acronym":394,"eligibilityCriteria":395,"healthyVolunteers":12,"sex":17,"minAge":152,"maxAge":4,"enrollmentInfo":396,"targetDuration":4,"studyType":69,"phases":398,"briefSummary":399,"conditions":400,"keywords":403,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":408,"lastUpdatePostDateStruct":409,"startDateStruct":411,"completionDateStruct":413,"leadSponsor":415,"locationsCount":416},"100412703","rheopheresis-as-adjuvant-treatment-of-calciphylaxis-100412703","NCT04654000","Rheopheresis as Adjuvant Treatment of Calciphylaxis","Efficacy of Rheopheresis as Adjuvant Treatment of Calciphylaxis in Hemodialysis Patients : a Prospective Randomized Controled Single-blind Trial","RHEO-CAL","Inclusion Criteria:\n\n* Calciphylaxis with at least one ulcerated or necrotizing lesion\n* End stage renal disease requiring hemodialysis\n* Weight superior to 30kg\n* Subject affiliated to or beneficiary of a social security system\n* Subject having signed written informed consent\n\nA patient with progressing calciphylaxis to ulcerate or necrosis despite conventional treatment may also be included.\n\nExclusion Criteria:\n\n* KARNOFSKY Performance Status Scale inferior to 30%\n* Life expectancy (independently of calciphylaxis) estimated \\\u003C 6 months according to a referring physician expert in hemodialysis\n* Uncontrolled infection (persistence of fever despite appropriate antibiotic therapy)\n* Common variable immunodeficiency\n* Albumin allergy\n* Contra-indication to stop anti-vitamin K treatment\n* Severe cognitive or psychiatric disorders, patients unable to give an informed consent or unwilling to participate in the study\n* Pregnancy or breastfeeding and all the other categories of people with special protection according to the French Code de la Santé Publique (CSP): patients under legal supervision, patients hospitalized without contentment, patients admitted in social or sanitary structures for care and not research, and patients in emergency situations.",{"count":397,"type":22},138,[71],"The investigators propose to set up a prospective randomized controlled trial to control the security and assess the efficacy of adjuvant treatment by rheopheresis in necrotizing-ulcered calciphylaxis in the hemodialysis population.",[401,402,27],"Metabolic Disorder","End Stage Renal Disease",[404,405,406,407],"Calciphylaxis","Rheopheresis","Hemodialysis","Chronic kidney disease","2026-02-09",{"date":410,"type":39},"2026-02-12",{"date":412,"type":39},"2023-03-07",{"date":414,"type":22},"2027-05",{"name":274,"class":143},29,{"id":418,"slug":419,"hasResults":12,"nctId":420,"briefTitle":421,"officialTitle":422,"acronym":423,"eligibilityCriteria":424,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":425,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":426,"conditions":427,"keywords":430,"overallStatus":133,"whyStopped":4,"lastUpdateSubmitDate":434,"lastUpdatePostDateStruct":435,"startDateStruct":437,"completionDateStruct":439,"leadSponsor":441,"locationsCount":47},"100623767","implementation-of-long-read-sequencing-for-the-diagnosis-of-rare-diseases-100623767","NCT07400913","Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.","Implementation of Long-read Sequencing for Epimutation Detection in the Diagnosis of Rare Diseases.","LongEpi","Inclusion Criteria:\n\n* Adult patients,adults under guardianship, or minors with autorisation from their legal representative, for whom extracted DNA or a tube of frozen blood is available in the molecular genetics laboratory.\n* Patients investigated for either :\n\n  * a syndromic intellectual development disorder (IDD) defined by:\n* age :\n\n  * Between 0 and 5 years with strict criteria: severe developmental delay in terms of motor skills, language and\u002For sociability OR\n  * ≥ 6 years: patients with IDD, regardless of severity (but with IDD proven by ad hoc neuropsychological tests)\n* association with minor morphological criteria and\u002For organ malformations.\n\n  * albinism defined by the presence of two of the following clinical signs: foveal hypoplasia, retinal hypopigmentation, iris transillumination, crossed asymmetry, nystagmus, skin\u002Fhair hypopigmentation (suggested diagnostic criteria proposed by Kruitj et al. (PMID: 30098354)).\n* Patients for whom genetic analyses (panel, exome, genome) are either :\n\n  * inconclusive (no pathogenic or probably pathogenic variant).\n  * A single heterozygous pathogenic or probably pathogenic variant identified in a gene associated with an autosomal recessive disease compatible with the phenotype.\n\nExclusion Criteria:\n\n* Refusal to participate in research protocols expressed at the time of written consent for genetic analysis as part of medical care.\n* Opposition expressed following receipt of information note.",{"count":177,"type":22},"Following on from the third national plan for rare diseases (PNMR3), the main objectives of the PNMR4 are to reduce diagnostic uncertainty and dead ends and to strengthen translational research to promote diagnosis and the development of new treatments in the field of rare diseases.\n\nTo this end, the French Genomic Medicine Plan 2025 (PFMG2025) is organizing the rollout of whole genome sequencing (WGS) for diagnostic purposes.\n\nThis technological milestone, covering regions outside the coding regions, has recently enabled the identification of variations in the RNU4-2 gene as a major cause of Intellectual Developmental Disorder (IDD), accounting for approximately 0.4% of cases. RNU4-2 is a gene encoding a small nuclear RNA (snRNA), which is not translated into protein, and whose variations are not accessible to exome sequencing techniques.\n\nHowever, based on current knowledge, these techniques are based on short-read sequencing technology and can diagnose up to 50% of patients. It is therefore necessary to develop new techniques to detect variations not identified by these techniques.\n\nIn this context, the development of third-generation sequencing, particularly using Nanopore technology, now makes it possible to combine genomic and post-genomic approaches through long-read whole genome sequencing coupled with the detection of methylated cytosines on native DNA.\n\nThis new approach therefore enables the simultaneous detection of point or structural genomic variants, methylation abnormalities, and haplotype reconstruction. Numerous studies have shown that this strategy improves the diagnosis rate of rare diseases and could become a first-line genetic test.\n\nDNA methylation is an epigenetic modification that does not cause changes in the genomic sequence but regulates the transcription (RNA synthesis) of genes and therefore their expression. Methylation studies are performed either to establish an episignature or to search for methylation abnormalities. An episignature is the result of a variation in a gene known to regulate methylation marks.\n\nMethylation abnormalities are already known and sought after in targeted analysis for certain diseases such as Prader-Willi\u002FAngelman syndromes and Beckwith-Wiedemann\u002FSilver-Russell syndromes. The contribution of methylation analysis to the diagnosis of other diseases has recently been demonstrated. For example, in methylmalonic aciduria and homocystinuria type cblC associated with the autosomal recessive gene MMACHC, promoter methylation analysis revealed hypermethylation linked to the presence of an intronic variant of the PRDX1 gene. This intronic variant leads to the synthesis of an aberrant antisense RNA overlapping the promoter of the MMACHC gene, causing its hypermethylation. In 2024, combined whole-genome and methylation analysis in patients with porokeratosis led to the discovery of the FDFT1 gene. In general, the study of methylation profiles has shown its value in reducing diagnostic uncertainty in patients with rare diseases who have not been diagnosed after genome analysis.\n\nThe search for methylation abnormalities (or epimutation) at the pan-genomic level in the context of molecular diagnosis of rare diseases remains largely inaccessible and poorly described in the literature. The techniques routinely used for their detection are most often based on bisulfite treatment and PCR amplification. The disadvantages of bisulfite treatment are that it degrades DNA, preventing long-read applications, that it does not distinguish between 5mC and 5hmC methylation, and that failure to treat unmethylated cytosines can lead to false positives . In addition, phase determination with a genomic variant identified in short reads requires complementary techniques such as SNP arrays.\n\nThis approach therefore appears to be a major technological advance in the fight against diagnostic uncertainty in rare diseases and is part of the move towards precision medicine for patients.\n\nAs part of our Reference Center for Developmental Anomalies and Malformation Syndromes of Southwest Occitanie Réunion (CRMR ADSOOR) at Bordeaux University Hospital, we have developed clinical and molecular expertise, particularly in the field of developmental anomalies with intellectual development disorders (particularly chromatinopathies and Rubinstein Taybi syndrome and albinism.\n\nIn 2024, 2,300 consultations were carried out at the CRMR. In addition, 243 and 228 genome or exome analyses were interpreted in our molecular biology laboratory for albinism and intellectual development disorder and malformation syndrome, respectively.\n\nOur expertise in these two areas therefore represents the best starting point for the development of this pilot project using this innovative approach at Bordeaux University Hospital.",[27,428,429],"Albinism","Intellectual Disability",[431,432,433],"Rare diseases","Long-read sequencing","Epimutation","2026-02-03",{"date":436,"type":39},"2026-02-10",{"date":438,"type":22},"2026-02",{"date":440,"type":22},"2028-02",{"name":442,"class":143},"University Hospital, Bordeaux",{"id":444,"slug":445,"hasResults":12,"nctId":446,"briefTitle":447,"officialTitle":448,"acronym":449,"eligibilityCriteria":450,"healthyVolunteers":92,"sex":17,"minAge":93,"maxAge":451,"enrollmentInfo":452,"targetDuration":4,"studyType":69,"phases":454,"briefSummary":455,"conditions":456,"keywords":457,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":459,"lastUpdatePostDateStruct":460,"startDateStruct":462,"completionDateStruct":464,"leadSponsor":466,"locationsCount":47},"100600859","genetic-study-to-determine-the-cause-of-birth-defects-in-newborns-in-texas-100600859","NCT07102966","Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas","MAGNET: Making Genomics Accessible For Newborns In Texas","MAGNET","Inclusion Criteria:\n\n* Undiagnosed infants from 0-90 days of age, with a diverse group of phenotypes and strongly suspected to have genetic disorders.\n\nExclusion Criteria:\n\n* (1) abnormal noninvasive prenatal testing (NIPT) suggesting chromosomal abnormality; (2) abnormal amniocentesis results, (3) abnormal newborn screening indicating an inborn error of metabolism; (4) abnormal FISH results for aneuploidy (trisomy 18, 13, or monosomy X); (5) Down syndrome; (6) dysmorphic features in the absence of other congenital anomalies; (7) isolated birth defects such as myelomeningocele, cleft lip\u002Fpalate, cardiac septal defects, isolated congenital diaphragmatic hernia, etc.; (8) birth defects due to known teratogens i.e., alcohol, Isotretinoin, etc.; (9) multiple congenital anomalies associated with maternal diabetes; (10) VACTERL association; and (11) hemodynamically unstable newborns needing transport for higher level of care.","90 Days",{"count":453,"type":22},410,[71],"The purpose of this study is to provide advanced genetic testing and virtual consultations for seriously ill newborns in hospitals in Texas with fewer resources, especially along the Texas-Mexico border. The researchers also want to know how well the virtual consultation tool, called Consultagene, works in these hospitals by gathering feedback from healthcare providers. Researchers will provide rapid whole genome sequencing (WGS) to 200 infants over a period of 5 years. Data will be collected via Consultagene, surveys, and qualitative interviews.",[27],[458],"Rapid whole genome sequencing, newborns, Texas","2026-01-26",{"date":461,"type":39},"2026-01-27",{"date":463,"type":39},"2025-10-28",{"date":465,"type":22},"2029-07-31",{"name":467,"class":143},"Baylor College of Medicine",{"id":469,"slug":470,"hasResults":12,"nctId":471,"briefTitle":472,"officialTitle":473,"acronym":4,"eligibilityCriteria":474,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":475,"targetDuration":477,"studyType":23,"phases":4,"briefSummary":478,"conditions":479,"keywords":505,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":510,"lastUpdatePostDateStruct":511,"startDateStruct":513,"completionDateStruct":515,"leadSponsor":517,"locationsCount":47},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":476,"type":22},380,"10 Years","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[27,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495,496,497,498,499,500,501,502,503,504],"Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[128,506,507,482,508,509,485,486,487,488,489,490,491,492,493,494,495,496,497,498,499,500,501,502,504],"amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":512,"type":39},"2026-01-14",{"date":514,"type":39},"2024-07-01",{"date":516,"type":22},"2034-12-31",{"name":518,"class":143},"Hospital Italiano de Buenos Aires",{"id":520,"slug":521,"hasResults":12,"nctId":522,"briefTitle":523,"officialTitle":524,"acronym":525,"eligibilityCriteria":526,"healthyVolunteers":12,"sex":17,"minAge":152,"maxAge":4,"enrollmentInfo":527,"targetDuration":18,"studyType":23,"phases":4,"briefSummary":528,"conditions":529,"keywords":531,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":533,"lastUpdatePostDateStruct":534,"startDateStruct":536,"completionDateStruct":538,"leadSponsor":540,"locationsCount":47},"100538028","umbrella-study-for-single-patient-treatments-in-oncology-100538028","NCT06285500","Umbrella Study for Single Patient Treatments in Oncology","UNIQUE: Umbrella N-of-1 Tumor Trials - Umbrella Protocol for Oncology Single Patient Protocols","UNIQUE","Inclusion Criteria \\& Exclusion Criteria:\n\nPatient's existing genomic information from tumor molecular profiling will be discussed in the hospital expert molecular tumor board rounds consisting of representatives from specialist genomic profiling and medical oncology departments to decide N of 1 treatment for the patient. The discussion will surround the best next therapeutic option in the patient's cancer subtype with or without clear standard of care guidelines. Therefore, specific eligibility criteria aside from individual patient's medical history is not applicable.",{"count":21,"type":22},"The purpose of this study is to collect data for assessing the improvement of the overall response rate for the overall cohorts and the proportion of patients accessing precision targeted therapy.",[530,27],"Advanced Cancer",[532],"single patient protocols","2025-12-08",{"date":535,"type":39},"2025-12-16",{"date":537,"type":39},"2024-02-01",{"date":539,"type":22},"2029-02-01",{"name":541,"class":143},"University Health Network, Toronto",{"id":543,"slug":544,"hasResults":12,"nctId":545,"briefTitle":546,"officialTitle":546,"acronym":547,"eligibilityCriteria":548,"healthyVolunteers":92,"sex":17,"minAge":152,"maxAge":4,"enrollmentInfo":549,"targetDuration":4,"studyType":69,"phases":551,"briefSummary":552,"conditions":553,"keywords":555,"overallStatus":133,"whyStopped":4,"lastUpdateSubmitDate":557,"lastUpdatePostDateStruct":558,"startDateStruct":560,"completionDateStruct":562,"leadSponsor":564,"locationsCount":566},"100597840","identification-of-cellular-biomarkers-of-rare-eye-diseases-in-adults-100597840","NCT07063719","Identification of Cellular Biomarkers of Rare Eye Diseases in Adults","REVIBIO","Inclusion Criteria:\n\nPatient group:\n\n* Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study)\n* Willingness and ability to read and understand the informed consent.\n* Diagnosis (including genotype, if needed) of REDs.\n* Affiliation with a social security scheme or beneficiary of such a scheme.\n\nRED 1 - AAK Diagnosis criteria\n\n* Compatible slit lamp examination (iris\u002Fpupillary abnormalities, with or without corneal opacification, vascularization, cataract, glaucoma). with or without:\n* Foveal hypoplasia and optic disc malformations as detected through fundus examination or OCT tomography\n* Compatible anterior segment OCT or high-frequency ultrasound biomicroscopy (UBM)\n* Positive genetic testing\n\nRED 2 - NK Diagnosis criteria\n\n* Compatible history and slit lamp findings of one of the three stages of the Mackie classification (I - punctate keratopathy; II - persistent epithelial defect; III - stromal involvement)\n* Reduced\u002Fabsent corneal sensitivity\n* Exclusion of infectious or toxic etiologies with or without:\n* confocal microscopy findings\n\nRED 3 - LSCD Diagnosis criteria\n\n* Compatible history and slit lamp examination (e.g. corneal conjunctivalization with persistent epithelial defects, loss of limbal anatomy or irregular staining with fluorescein) with or without:\n* confocal microscopy findings\n\nRED 4 - OCP Diagnosis criteria\n\n* Compatible slit lamp examination\n* Exclusion of infectious or toxic etiologies with or without:\n* conjunctival \u002Foral biopsy with characteristic mucous pemphigoid findings\n\nRED 5 - OC GVHD Diagnosis criteria • Compatible history and slit lamp examination consistent with one of 4 grades of ocular GVHD (1 - conjunctival hyperemia, 2 - fibrovascular changes \\\u003C25% of palpebral conjunctiva, 3 - fibrovascular changes \\>25%, 4 - \\>75% or cicatricial entropion)\n\nRED 6 - EEC Diagnosis criteria\n\n* Compatible slit lamp examination\n* Compatible systemic findings with or without:\n* Positive genetic testing\n\nRED 7- CNV Diagnosis criteria\n\n* Compatible slit lamp examination of corneal stromal neovascularization (1-4 quadrants)\n* Exclusion of infectious or toxic etiologies with or without:\n* confocal microscopy findings\n\nControl group:\n\n* Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study).\n* Willingness and ability to read and understand the informed consent.\n* Non-diagnosis of REDs.\n* Affiliation with a social security scheme of beneficiary of such a scheme.\n\nExclusion Criteria:\n\nPatient group:\n\n* Pregnancy, breastfeeding (in case any stress was caused to the woman by the biological sampling).\n* Descemetocele\u002Fimpending corneal perforation.\n* Recent (less than 3 months) ocular surgery.\n* Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.\n* Persons subject to a legal protection measure (under guardianship, curatorship or safeguard of justice)\n\nControl group:\n\n* Pregnancy, breastfeeding.\n* Active ocular infection.\n* Descemetocele\u002Fimpending corneal perforation.\n* Recent (less than 3 months) ocular surgery.\n* Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.\n* Persons subject to a legal protection measure. (under guardianship, curatorship or safeguard of justice)",{"count":550,"type":22},110,[71],"The cornea is the outermost transparent 'window' of the eye allowing light to enter and serving as the first-line immune and mechanical barrier. It is a complex avascular tissue composed of cells, stem cells, nerves, and collagen layers organized in an exquisite manner to maintain its transparency and self-healing capacity. This delicately balanced interplay of corneal elements is disrupted in rare diseases of the cornea, resulting in non-healing wounds, corneal ulceration, inflammation, new vessel ingrowth (neovascularization), defective innervation, scarring, oedema and loss of transparency. For many Rare Eye Diseases (REDs), drug development has been relatively unsuccessful, delivering few to no new therapies. Current management is often prohibitively expensive, has low efficacy and leads to debilitating side effects. The RESTORE VISION project (https:\u002F\u002Frestorevision-project.eu\u002F) aims to improve eye health by using cutting-edge models for each rare disease to test novel and repurposed compounds (9 in total) and determine drug mechanisms of action, formulating compounds as safe eye drop suspensions, and performing several first-in-human trials of novel therapies. Thes drugs have solid preliminary data showing beneficial effects in restoring the cell physiology, immune, avascular, neural and signaling environment in the cornea.\n\nThe current clinical study is part of Work package 2 within the RESTORE VISION EU grant agreement (''Validation of human drug targets of repurposed drugs and novel therapies'') and aims to ascertain the expression levels of genes and proteins and investigate pathways of interest in human tissue and fluid samples of REDs, that are targeted by the proposed experimental\u002Frepurposed substances. Therapeutic target gene and\u002For protein expression will be verified in human blood, tears and conjunctival cells collected from 7 RED patient groups. The RESTORE VISION Consortium know multiple putative genes and proteins involved in the REDs and\u002For affected by the drugs to be tested in RED models. These will be analyzed in patient samples from the 7 REDs to see if they are 1) expressed at all; 2) differ in expression between patient and control group and 3) are correlated with clinical endpoints and\u002For symptoms of REDs.\n\nThe 7 REDs under investigation are briefly explained as follows:\n\n1. AAK: genetic progressive limbal stem cell degeneration leading to corneal neovascularization, inflammation, recurrent erosions, chronic pain and vision loss.\n2. OCP: autoimmune scarring of the conjunctiva leads to deficient wound healing, inflammation, scarring, blindness and pain.\n3. EEC Syndrome: Ectodermal Dysplasia causes pathological corneal scarring and blindness.\n4. NK: involves a corneal nerve deficit leading to reduction or loss of corneal sensitivity, impaired wound healing, corneal ulceration and loss of vision.\n5. LSCD: acquired or hereditary stem cell deficiency inducing epithelial breakdown, neovascularization, scarring and inflammation leading to decreased vision, tearing and pain.\n6. oGvHD: a severe side-effect of successful bone-marrow transplantation leads to painful and blinding ocular surface inflammation, neovascularization and delayed wound healing.\n7. CN: in high-risk transplantation, pathologic inflammation, corneal blood and lymphatic vessels are key risk factors for high-risk corneal graft failure, leading to graft rejection and blindness.",[27,554],"Ophthalmology",[556],"Rare occular disease","2025-12-04",{"date":559,"type":39},"2025-12-05",{"date":561,"type":22},"2026-01-20",{"date":563,"type":22},"2027-01-20",{"name":565,"class":84},"Institut National de la Santé Et de la Recherche Médicale, France",2,{"id":568,"slug":569,"hasResults":12,"nctId":570,"briefTitle":571,"officialTitle":572,"acronym":573,"eligibilityCriteria":574,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":575,"targetDuration":577,"studyType":23,"phases":4,"briefSummary":578,"conditions":579,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":580,"lastUpdatePostDateStruct":581,"startDateStruct":583,"completionDateStruct":585,"leadSponsor":587,"locationsCount":589},"100453080","swiss-rare-disease-registry-srdr-100453080","NCT05179863","Swiss Rare Disease Registry (SRDR)","Swiss Rare Disease Registry","SRDR","Inclusion Criteria:\n\n* Diagnosed with a rare disease\n* High suspicion of a rare disease\n* Treated or living in Switzerland\n* Signed informed consent\n\nExclusion Criteria:\n\n* None",{"count":576,"type":22},500000,"80 Years","The SRDR is a national registry that records rare diseases in people of any age who live in Switzerland. It serves as a platform for scientists, health professionals, affected people, and politicians.The SRDR aims to collect epidemiological data on rare diseases, and data on changes to the diagnosis over time. The SRDR will further serve as a research platform and facilitate patient participation in national and international studies. The SRDR will promote harmonization of data and method between the numerous existing disease-specific registries in Switzerland, will strengthen the exchange with international rare disease registries for research and policy, and will build a network for communication for patients and health care providers.",[27],"2025-11-26",{"date":582,"type":39},"2025-11-28",{"date":584,"type":39},"2018-01-01",{"date":586,"type":22},"2071-01",{"name":588,"class":143},"University of Bern",20,{"id":591,"slug":592,"hasResults":12,"nctId":593,"briefTitle":594,"officialTitle":595,"acronym":596,"eligibilityCriteria":597,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":598,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":599,"conditions":600,"keywords":607,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":625,"lastUpdatePostDateStruct":626,"startDateStruct":628,"completionDateStruct":630,"leadSponsor":632,"locationsCount":47},"100608769","retrospective-epidemiological-study-of-patients-in-the-national-cohort-of-the-french-tma-center-100608769","NCT07205861","Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA Center","Auto-immune Thrombotic Thrombocytopenic Purpura : Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA Center, TWI-LIGHT","TWILIGHT","Inclusion Criteria:\n\n-Patients with a diagnosis of immune mediated TTP\n\nExclusion Criteria:\n\n* Cancer- associated iTTP and HIV-associated iTTP\n* Severe sepsis\n* Disseminated intravascular coagulation with consumption of coagulation factors;\n* Transplant-associated TTP\n* HIV-associated TTP (AIDS stage)\n* Patient not affiliated with a social security scheme\n* Patient or parent's objection to the reuse of their healthcare data for research",{"count":68,"type":22},"Immune thrombotic thrombocytopenic purpura (iTTP) is a rare, life-threatening disorder characterized by microangiopathic hemolytic anemia, severe thrombocytopenia, and ischemic organ damage due to microvascular thrombosis. It results from a severe deficiency in the von Willeband factor (vWF)-cleaving protease ADAMTS13, primarily caused by autoantibodies that inhibit its activity. This deficiency leads to accumulation of ultra-large vWF multimers, triggering pathological platelet aggregation and widespread microthrombi. iTTP typically presents with acute neurological symptoms (e.g., confusion, seizures, coma), cardiac events (e.g., myocardial infarction), and multiorgan dysfunction. Without prompt treatment-plasma exchange, immunosuppression, and the vWF inhibitor caplacizumab-mortality exceeds 90%. Survivors face long-term risks, including cardiovascular complications, cognitive impairment, and reduced life expectancy.\n\nThe TWI-LIGHT protocol is a national retrospective epidemiological study coordinated by the French Reference Center for Thrombotic Microangiopathies (CNR-MAT). It aims to analyze long-term outcome in \\>1,200 iTTP patients diagnosed between October 2000 and June 2024. The study leverages pseudonymized data from the CNR-MAT registry, collected via a secure REDCap database.\n\nKey Objectives:\n\n1. Primary: Assess the impact of cardiovascular risk factors (e.g., hypertension, diabetes) and ADAMTS13 activity on life expectancy in iTTP survivors.\n2. Secondary:\n\n   * Evaluate disease burden in underrepresented groups (pregnant\u002Fpostpartum women, children, elderly patients).\n   * Analyze the influence of new therapies (caplacizumab, rituximab, recombinant ADAMTS13) on care pathways.\n   * Identify prognostic factors and treatment practices.\n   * Characterize neurocognitive outcomes and quality of life post-iTTP.\n\nMethodology:\n\n* Design: Non-interventional, retrospective (MR-004 compliance), using data from standard care.\n* Inclusion: Patients with confirmed iTTP (thrombocytopenia, hemolytic anemia, ADAMTS13 \\\u003C10%), diagnosed within the study period, and ≥1 year of follow-up.\n* Exclusion: Cancer-associated iTTP, severe sepsis, or patient opposition to data reuse.\n* Data Collection: Clinical, biological, and therapeutic variables from hospital\u002Fconsultation records, including cardiovascular events, ADAMTS13 activity, and neurocognitive assessments.\n* Analysis: Kaplan-Meier survival curves and Cox regression models to identify risk factors for non-iTTP-related death.\n\nExpected Outcomes:\n\n* Prevalence of cardiovascular comorbidities and their correlation with ADAMTS13 activity.\n* Insights into iTTP subtypes (e.g., gestational, pediatric) and therapeutic efficacy.\n* Evidence-based strategies for personalized long-term management.\n\nEthical Framework:\n\n* AP-HP-sponsored, with oversight from Sorbonne University's ethics committee.\n* Patients informed of data reuse with opt-out rights; data archived for 15 years.\n\nThis landmark study will inform clinical guidelines, optimize survivor care, and address unmet needs in iTTP management through comprehensive, real-world data analysis.",[601,602,603,604,337,605,27,606],"Thrombotic Thrombocytopenic Purpura (TTP)","Immune Thrombotic Thrombocytopenic Purpura","Thrombotic Microangiopathies","Microangiopathy, Thromboic","Autoimmune Diseases","Neurological Manifestations",[608,602,609,610,611,612,613,614,615,616,617,618,619,620,621,622,623,624],"Thrombotic Thrombocytopenic Purpura","Thrombotic Microangiopathies (MeSH: D057049)","Microangiopathies, Thrombotic (MeSH: D057172)","ADAMTS13 Protein (MeSH: C423082)","Autoimmune Diseases (MeSH: D001327)","Cardiovascular Diseases (MeSH: D002318)","Epidemiologic Studies (MeSH: D004812)","Retrospective Studies (MeSH: D012196)","Observational Study (Publication Type)","Risk Factors (MeSH: D012307)","Treatment Outcome (MeSH: D016647)","Rare Diseases (MeSH: D034381)","Longitudinal Studies (MeSH: D008159)","Patient Registry (MeSH: D010329)","Survival (MeSH: D009505)","Quality of Life (MeSH: D011788)","Neurological Manifestations (MeSH: D009462)","2025-09-25",{"date":627,"type":39},"2025-10-03",{"date":629,"type":39},"2024-12-02",{"date":631,"type":22},"2028-12",{"name":633,"class":143},"Assistance Publique - Hôpitaux de Paris",{"id":635,"slug":636,"hasResults":12,"nctId":637,"briefTitle":638,"officialTitle":639,"acronym":640,"eligibilityCriteria":641,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":642,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":644,"conditions":645,"keywords":648,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":652,"lastUpdatePostDateStruct":653,"startDateStruct":655,"completionDateStruct":657,"leadSponsor":659,"locationsCount":47},"100494209","aortic-stiffness-in-patients-with-genetic-aortopathies-100494209","NCT05715203","Aortic Stiffness in Patients With Genetic Aortopathies","Aortic Stiffness in Patients With Genetic Aortopathies: Intervention Analysis","PULSEWAVE","Inclusion Criteria:\n\n* Subjects with AAT, either syndromic or non syndromic;\n* Signed informed consent\n\nExclusion Criteria:\n\n* Patients with early menopause and\u002For osteoporosis, rheumatic heart disease and active malignant tumours;\n* Patients with acute and chronic inflammatory conditions such as: chronic liver disease, chronic renal insufficiency and diseases affecting the thyroid system;\n* Seropositivity to HIV, HCV, HBsAg and SARS-CoV-2;\n* Pregnancy",{"count":643,"type":22},250,"The goal of this observational study is to study arterial stiffness in patients with thoracic ascending aortic aneurysms (TAA), either syndromic or non-syndromic. The main questions it aims to answer are:\n\n* Stratification of aortic risk based on arterial stiffness; Compare measurements with morphological and haemodynamic features of the ascending thoracic aorta.\n\nParticipants will be asked to undergo non-invasive evaluation of blood pressure and arterial stiffness.",[27,646,647],"Aortic Stiffness","Connective Tissue Defect",[649,650,651],"arterial stiffness","Ascending aortic aneurysm","pulse wave velocity","2025-09-08",{"date":654,"type":39},"2025-09-10",{"date":656,"type":39},"2023-02-15",{"date":658,"type":22},"2025-12-31",{"name":660,"class":143},"IRCCS Policlinico S. Donato",{"id":662,"slug":663,"hasResults":12,"nctId":664,"briefTitle":665,"officialTitle":665,"acronym":4,"eligibilityCriteria":666,"healthyVolunteers":12,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":667,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":669,"conditions":670,"keywords":671,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":673,"lastUpdatePostDateStruct":674,"startDateStruct":676,"completionDateStruct":678,"leadSponsor":680,"locationsCount":47},"100509470","deciface-decipher-the-influence-of-ethnic-backgrounds-on-the-facial-dysmorphic-features-of-rare-mendelian-disorders-100509470","NCT05913843","DeciFace: Decipher the Influence of Ethnic Backgrounds on the Facial Dysmorphic Features of Rare Mendelian Disorders","Inclusion Criteria:\n\n* Cases with abnormal appearance of clinical symptoms and suspected genetic diseases\n\nExclusion Criteria:\n\n* Unable to cooperate with the examiner",{"count":668,"type":22},100,"There are more than 7000 known genetic disorders, and the number of affected is estimated to be about 6-10% of the population. Around 30 to 40% of genetic disorders have physical changes in the face and skull such as Down's syndrome or Fragile X syndrome. Therefore, the known facial phenotype of many genetic disorders is highly informative to clinical diagnosis.\n\nSince a large number of genetic diseases are associated with special facial phenotypes that are difficult to remember, automated facial analysis such as Face2Gene and GestaltMatcher can assist in the identification and diagnosis of facial phenotypes related to various genetic diseases. Although the current advances in whole exome sequencing (whole exome sequencing) or whole genome sequencing (whole genome sequencing) have greatly improved the diagnostic rate of genetic diseases, about half of the patients are still undiagnosed.\n\nFor patients with special facial phenotypes, the investigators believe that by combining automated facial analysis and whole exome sequencing data, it should be possible to provide a fast and accurate diagnostic model of genetic mutations for genetic diseases. GestaltMatcher Database is a medical imaging database of rare diseases developed by Professor Peter Krawitz of the University of Bonn, Germany. The database's artificial intelligence module will infer a patient's possible diagnosis based on the patient's photo, age, gender, race, and clinical description. The database will be open to medical researchers in related fields to improve the diagnosis of rare diseases.\n\nThe investigators will use GestaltMatcher to assist in the diagnosis of patients, and compare the accuracy and significant differences in facial deformities between Taiwanese patients and patients from different countries. And use Eye Tracker to analyze how doctors diagnose patients through facial photos, and compare whether there are significant differences between foreign patients and Taiwanese patients in the diagnosis literature of Taiwanese doctors. The project will also analyze how genetic doctors at the University of Bonn in Germany diagnose patients, and compare it with Taiwanese doctors to better understand the differences in the process of doctors diagnosing patients and ethnic backgrounds.",[27],[672],"Automated facial analysis","2025-08-14",{"date":675,"type":39},"2025-08-20",{"date":677,"type":39},"2024-07-30",{"date":679,"type":22},"2026-06-30",{"name":681,"class":143},"National Taiwan University Hospital",{"id":683,"slug":684,"hasResults":12,"nctId":685,"briefTitle":686,"officialTitle":686,"acronym":687,"eligibilityCriteria":688,"healthyVolunteers":92,"sex":17,"minAge":152,"maxAge":577,"enrollmentInfo":689,"targetDuration":364,"studyType":23,"phases":4,"briefSummary":691,"conditions":692,"keywords":698,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":707,"lastUpdatePostDateStruct":708,"startDateStruct":710,"completionDateStruct":712,"leadSponsor":714,"locationsCount":566},"100542491","gait-and-balance-impairment-in-rare-and-very-rare-neurological-diseases-100542491","NCT06343558","Gait and Balance Impairment in Rare and Very Rare Neurological Diseases","GALVANISE","Inclusion criteria\n\n* Multiple sclerosis, Parkinson's disease, peripheral neuropathy of the lower limbs or rare or ultrarare neurological disease (e.g. la Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome - CANVAS, ORPHAcode: 504476; Wilson's disease, ORPHAcode: 905)\n* undiagnosed neurological disease, i.e. a neurological disease that remains unknown after a full diagnostic assessment;\n* age \\> 18 years;\n* ability to stand upright with no assistance and no assistive device for \\> 30 seconds;\n* ability to walk without assistance and with no assistive device for \\> 50 m;\n* ability to give their informed consent.\n\nExclusion criteria\n\n* pregnancy or breastfeeding\n* any other medical conditions affecting by itself balance and gait (e.g. lower limb amputation, hemiparesis due to a stroke)\n* major orthopaedic surgery (e.g. hip or knee replacement).",{"count":690,"type":22},200,"Rare and very rare neurological diseases primarily or exclusively affect the nervous system with a prevalence of \\\u003C 5 out of 10'000 and 100'000 people, respectively. Besides these, there are undiagnosed neurological diseases: neurological conditions without a diagnosis after completing a full diagnostic examination.\n\nRare, very rare, and undiagnosed neurological diseases are complicated and progressive and often cause variegated motor signs, impairments, and syndromes.\n\nBalance and gait are frequently affected in these conditions, already at the clinical examination. These balance and gait impairments limit activities and cause an increased risk of falling. Falls can eventually result in injuries, even severe.\n\nThere are only a few studies about these diseases, likely because of their rarity. Hence, the clinical presentation and the course of rare and very rare diseases are poorly known or even unknown. Essential information for these conditions' diagnosis, prognosis, treatment and rehabilitation is missing.\n\nMaNeNeND is an observational study underway at the Fondazione IRCCS Istituto Neurologico \"Carlo Besta\" (Milano) aimed at detailing the clinical and biological features of very rare and undiagnosed neurological diseases.\n\nResearch questions:\n\n1. Do patients with rare (Ra), very rare (V) and undiagnosed (U) neurological diseases suffer a balance and gait impairment?\n2. Is there a correlation between the clinical and instrumental severity of the balance and gait impairment in RaVU neurological diseases?\n3. Are instrumental measures more sensitive in detecting balance and gait impairments in patients affected by a RaVU neurological disease than the clinical measures?\n4. Do the balance and gait impairments in RaVU neurological diseases worsen in time?\n\nThe current project aims at diagnosing, quantifying and detailing the balance and gait impairment in rare, very rare and undiagnosed neurological diseases.\n\nTo this aim, questionnaires, clinical scales and instrumental tests will be administered to these patients to collect a wide range of balance and gait measures.\n\nThese measures will also integrate those collected with MaNeNeND to provide a more detailed description of patients with rare, very rare and diagnosed neurological diseases.\n\nParticipants will complete two questionnaires: the Dizziness Handicap Inventory - short form (DHI-sf, an ordinal score of self-perceived balance) and the Modified Fatigue Impact Scale (MFIS, an ordinal score of self-perceived fatigue).\n\nMoreover, a clinician will administer the Mini Balance Evaluation Systems Test (Mini-BESTest, an ordinal score of balance), the 10 m walking test (for measuring the gait speed and other gait parameters) and the Timed Up and Go test (an instrumental measure of mobility and balance). Walking and the Timed Up and Go tests will be recorded with a trunk-worn inertial measurement unit.\n\nFinally, participants will be asked to complete an instrumental upright stance and gait assessment, the first consisting of standing on posturographic plates and the second of walking on a treadmill equipped with force sensors. When walking on the treadmill, an optoelectronic system will also record the position in time of limbs and trunk.\n\nThe quantification of the severity of the balance and gait impairment of the patients suffering a rare, very rare or undiagnosed neurological disease will highlight these persons' therapeutic and rehabilitative needs.\n\nComparing the balance and gait impairment of rare, very rare and undiagnosed diseases with those of multiple sclerosis, Parkinson's disease and peripheral neuropathy will highlight if the formers' balance and gait impairment has unique characteristics that could help ease the diagnosis of these uncommon conditions.\n\nThe longitudinal measurements on rare, very rare and undiagnosed diseases will be paramount to identifying prognostic factors.\n\nIn addition, the data collected in the current study will be crucial for future studies, for example, for estimating the sample size in clinical trials.",[693,694,695,27,696,697],"Multiple Sclerosis","Parkinson Disease","Peripheral Neuropathy","Healthy","Healthy Aging",[699,700,701,702,703,704,705,706],"Rare neurological diseases","Very rare neurological diseases","Undiagnosed neurological diseases","Upright stance","Balance","Risk of falling","Gait analysis","Posturography","2025-08-01",{"date":709,"type":39},"2025-08-03",{"date":711,"type":39},"2023-05-30",{"date":713,"type":22},"2027-05-01",{"name":715,"class":143},"Istituto Auxologico Italiano"]