[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100285430":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":12,"centralContacts":16,"locations":22,"responsibleParty":58,"collaborators":10,"id":61,"slug":62,"hasResults":63,"nctId":64,"briefTitle":65,"officialTitle":66,"acronym":10,"eligibilityCriteria":67,"healthyVolunteers":63,"sex":68,"minAge":10,"maxAge":10,"enrollmentInfo":69,"targetDuration":72,"studyType":73,"phases":10,"briefSummary":74,"conditions":75,"keywords":10,"overallStatus":25,"whyStopped":10,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":86},{"fullName":5,"class":6},"University of Pittsburgh","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":10},"Neurogenetic Patients",null,"The Neurogenetics Clinic, which started in 2016, provides clinical care for undiagnosed patients with complex neurological disorders in which a genetic etiology is considered and for children with diagnosed rare neurogenetic disorders - provide pre test counseling, diagnostic services for the undiagnosed patients and long-term management of patients with a wide range of diagnosed genetic disorders of the nervous system.",[13],{"name":14,"affiliation":5,"role":15},"Deepa Soundara Rajan, MD","PRINCIPAL_INVESTIGATOR",[17],{"name":18,"role":19,"phone":20,"phoneExt":10,"email":21},"Jennifer Baker, MA","CONTACT","412-69-26378","jennifer.baker@chp.edu",[23],{"facility":24,"status":25,"city":26,"state":27,"zip":28,"country":29,"countryCode":30,"cosmosGeoPoint":31,"geoPoint":36,"contacts":37},"Children's Hospital of Pittsburgh of UPMC","RECRUITING","Pittsburgh","Pennsylvania","15224","United States","US",{"type":32,"coordinates":33},"Point",[34,35],-79.99589,40.44062,{"lat":35,"lon":34},[38,40,41,44,46,48,50,52,54,56],{"name":18,"role":19,"phone":39,"phoneExt":10,"email":21},"412-692-6378",{"name":14,"role":15,"phone":10,"phoneExt":10,"email":10},{"name":42,"role":43,"phone":10,"phoneExt":10,"email":10},"Ira Bergman, MD, PhD","SUB_INVESTIGATOR",{"name":45,"role":43,"phone":10,"phoneExt":10,"email":10},"Andrew McCarty, CGC",{"name":47,"role":43,"phone":10,"phoneExt":10,"email":10},"Udai Pandey, PhD",{"name":49,"role":43,"phone":10,"phoneExt":10,"email":10},"Aleksandar Rajkovic, MD, PhD",{"name":51,"role":43,"phone":10,"phoneExt":10,"email":10},"Dietrich Stephan, PhD",{"name":53,"role":43,"phone":10,"phoneExt":10,"email":10},"Gerard Vockley, MD, PhD",{"name":55,"role":43,"phone":10,"phoneExt":10,"email":10},"Alexander Yatsenko, MD, PhD",{"name":57,"role":43,"phone":10,"phoneExt":10,"email":10},"Svetlana Yatsenko, MD",{"type":15,"investigatorFullName":59,"investigatorTitle":60,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Deepa Soundara Rajan","Assistant Professor","100285430","neurogenetics-patient-registry-100285430",false,"NCT02995538","Neurogenetics Patient Registry","Neurogenetics Program Patient Registry: Clinical and Genetic Diagnosis, Natural History Study, Translational Research and Biorepository","Inclusion Criteria:\n\n* Patients evaluated at the Neurogenetics clinic and suspected to have an underlying neurogenetic disorder will be included.\n* Patients with known abnormal genetic testing with a neurological phenotype will be included.\n\nExclusion Criteria:\n\n* Patient with acquired diagnosis, which can explain the patients clinical symptoms and with a clinical phenotype or family history not suggestive of an underlying genetic etiology.","ALL",{"count":70,"type":71},1000,"ESTIMATED","100 Years","OBSERVATIONAL","The objective of this project is to develop a Neurogenetics patient database and bio repository - which includes clinical information regarding history, physical examination, laboratory testing including genetic testing (NextGen sequencing including whole exome and whole genome sequencing, SNParray, etc.), neuroradiology studies, neurophysiology studies - all ordered as clinically deemed appropriate, natural history from clinical longitudinal follow-up and to use de-identified information from this registry\u002F repository, when appropriate for clinical and translational research.",[76],"Neurogenetic Disorders","2026-03-04",{"date":79,"type":80},"2026-03-06","ACTUAL",{"date":82,"type":80},"2017-01-30",{"date":84,"type":71},"2028-01",{"name":5,"class":6},1]