[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"undiagnosed-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:undiagnosed-disease":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,43,64],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":16,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":26,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100407488","uw-undiagnosed-genetic-diseases-program-100407488",false,"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.","ALL","100 Years",{"count":18,"type":19},1000,"ESTIMATED","OBSERVATIONAL","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.",[23,24,25],"Rare Diseases","Genetic Disease","Undiagnosed Disease",[27,28,29],"genomics","genome sequencing","undiagnosed disease","RECRUITING","2026-05-28",{"date":33,"type":34},"2026-05-29","ACTUAL",{"date":36,"type":34},"2021-07-16",{"date":38,"type":19},"2030-10",{"name":40,"class":41},"University of Wisconsin, Madison","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":4,"eligibilityCriteria":49,"healthyVolunteers":50,"sex":15,"minAge":4,"maxAge":16,"enrollmentInfo":51,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":53,"conditions":54,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":42},"100280187","exome-and-genome-analysis-to-elucidate-genetic-etiologies-and-population-characteristics-in-the-plain-community-100280187","NCT02927158","Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain Community","Use of Whole Exome Sequencing\u002FWhole Genome Sequencing in the Plain Communities","Inclusion Criteria:\n\n* Any person of Amish or Mennonite descent\n\nExclusion Criteria:\n\n* Individuals who are not of Amish or Mennonite descent",true,{"count":52,"type":19},300,"This study is designed to utilize whole exome and whole genome sequencing techniques to identify underlying genetic causes for undiagnosed disorders in the Plain Communities, and to do population genetic studies looking at genetic drift and founder mutations in this unique population.",[25],"2026-03-07",{"date":57,"type":34},"2026-03-10",{"date":59,"type":4},"2016-08",{"date":61,"type":19},"2040-08",{"name":63,"class":41},"University of Pittsburgh",{"id":65,"slug":66,"hasResults":11,"nctId":67,"briefTitle":68,"officialTitle":69,"acronym":4,"eligibilityCriteria":70,"healthyVolunteers":11,"sex":15,"minAge":71,"maxAge":4,"enrollmentInfo":72,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":74,"conditions":75,"keywords":80,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":103,"lastUpdatePostDateStruct":104,"startDateStruct":106,"completionDateStruct":108,"leadSponsor":110,"locationsCount":42},"100430075","longitudinal-study-of-ultra-rare-inherited-metabolic-and-degenerative-neurological-diseases-100430075","NCT04880356","Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.","Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases","Inclusion Criteria:\n\n* Age \\>= 18 years\n* Subjects with ultra-rare inherited degenerative and metabolic neurological diseases\n* Subjects with undiagnosed neurological diseases (when supposed to be inherited)\n\nExclusion Criteria:\n\n* none","18 Years",{"count":73,"type":19},100,"General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.",[76,23,77,25,78,79],"Inherited Disease","Metabolic Disease","Neurologic Disorder","Neuro-Degenerative Disease",[81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102],"Leukodystrophies,","Adrenoleukodystrophy,","Metachromatic leukodystrophy,","Krabbe disease,","Vanishing White Matter Syndrome,","Alexander disease,","Hereditary Leukodystrophy with Spheroids (CSF1R-related HLDS),","Nasu-Hakola disease (TREM2- and TYROBP-related disease)","Leukoencephalopathy, progressive, with ovarian failure (LKENP, AARS2-related),","Pelizaeus-Merzbacher disease,","Pelizaeus-Merzbacher-like disease,","Hypomyelinating leukodystrophies,","Leukodystrophies with calcifications and cysts (LCC),","Leukoencephalopathy with ataxia disease (LKPAT, CLCN2-related),","L-2-Hydroxyglutaric aciduria,","Polyglucosan bodies disease,","Methylmalonic acidemia with homocystinuria,","Niemann-pick type C,","Fahr's disease,","Wilson's disease,","Cerebrotendinous Xanthomatosis,","Sphingolipidoses","2024-11-15",{"date":105,"type":34},"2024-11-19",{"date":107,"type":34},"2021-03-01",{"date":109,"type":19},"2031-03",{"name":111,"class":41},"Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta"]