[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100407488":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":20,"centralContacts":24,"locations":29,"responsibleParty":49,"collaborators":51,"id":55,"slug":56,"hasResults":57,"nctId":58,"briefTitle":59,"officialTitle":59,"acronym":10,"eligibilityCriteria":60,"healthyVolunteers":57,"sex":61,"minAge":10,"maxAge":62,"enrollmentInfo":63,"targetDuration":10,"studyType":66,"phases":10,"briefSummary":67,"conditions":68,"keywords":72,"overallStatus":32,"whyStopped":10,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":80,"completionDateStruct":82,"leadSponsor":84,"locationsCount":85},{"fullName":5,"class":6},"University of Wisconsin, Madison","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Undiagnosed Disease Group",null,"Blood or other relevant biological samples obtained from consenting research subjects will be banked and extracted for DNA and RNA.",[13],"Diagnostic Test: Trio Whole Genome Sequencing and Participant-Specific Research",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":10},"DIAGNOSTIC_TEST","Trio Whole Genome Sequencing and Participant-Specific Research","The initial evaluation begins with short-read genome sequencing of DNA extracted from blood of affected individual(s) and participating family members (The most common approach will be trio whole genome sequencing, which involves the affected child + their parents).\n\nAdditional evaluation may include: functional assessments, animal modeling, reverse phenotyping (may require an interim visit), epigenetic profiling, or clinical database matching through selective sharing of coded patient data with external collaborators (e.g., via Matchmaker Exchange and Phenome Central), long read genome sequencing, de novo genome assembly, RNA sequencing, and novel bioinformatics analyses",[9],[21],{"name":22,"affiliation":5,"role":23},"Bryn Webb, MD","PRINCIPAL_INVESTIGATOR",[25],{"name":26,"role":27,"phone":28,"phoneExt":10,"email":10},"Research Coordinator","CONTACT","(608) 263-5877",[30],{"facility":31,"status":32,"city":33,"state":34,"zip":35,"country":36,"countryCode":37,"cosmosGeoPoint":38,"geoPoint":43,"contacts":44},"University of Wisconsin School of Medicine and Public Health","RECRUITING","Madison","Wisconsin","53705","United States","US",{"type":39,"coordinates":40},"Point",[41,42],-89.40123,43.07305,{"lat":42,"lon":41},[45,48],{"name":46,"role":27,"phone":28,"phoneExt":10,"email":47},"Study Coordinator","research@CHGPM.wisc.edu",{"name":22,"role":23,"phone":10,"phoneExt":10,"email":10},{"type":50,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[52],{"name":53,"class":54},"University of Wisconsin Center for Human Genomics and Precision Medicine","UNKNOWN","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":64,"type":65},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.",[69,70,71],"Rare Diseases","Genetic Disease","Undiagnosed Disease",[73,74,75],"genomics","genome sequencing","undiagnosed disease","2026-05-28",{"date":78,"type":79},"2026-05-29","ACTUAL",{"date":81,"type":79},"2021-07-16",{"date":83,"type":65},"2030-10",{"name":5,"class":6},1]