[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100323523":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":15,"centralContacts":19,"locations":27,"responsibleParty":46,"collaborators":48,"id":57,"slug":58,"hasResults":59,"nctId":60,"briefTitle":61,"officialTitle":62,"acronym":10,"eligibilityCriteria":63,"healthyVolunteers":59,"sex":64,"minAge":10,"maxAge":10,"enrollmentInfo":65,"targetDuration":68,"studyType":69,"phases":10,"briefSummary":70,"conditions":71,"keywords":79,"overallStatus":30,"whyStopped":10,"lastUpdateSubmitDate":104,"lastUpdatePostDateStruct":105,"startDateStruct":108,"completionDateStruct":110,"leadSponsor":112,"locationsCount":113},{"fullName":5,"class":6},"Columbia University","OTHER",[8,12],{"label":9,"type":10,"description":11,"interventionNames":10},"Variant in a hnRNP gene",null,"Individuals with a variant in any hnRNP gene who present with neurodevelopmental abnormalities are eligible for the study.",{"label":13,"type":10,"description":14,"interventionNames":10},"Variant in other gene","Individuals with a confirmed variant in other genes who present with neurodevelopmental abnormalities are eligible for the study.",[16],{"name":17,"affiliation":5,"role":18},"Jennifer M. Bain, MD, PhD","PRINCIPAL_INVESTIGATOR",[20,24],{"name":17,"role":21,"phone":22,"phoneExt":10,"email":23},"CONTACT","646-426-3876","jb3634@cumc.columbia.edu",{"name":25,"role":21,"phone":10,"phoneExt":10,"email":26},"Joanna Feng","jlf2218@cumc.columbia.edu",[28],{"facility":29,"status":30,"city":31,"state":31,"zip":32,"country":33,"countryCode":34,"cosmosGeoPoint":35,"geoPoint":40,"contacts":41},"Columbia University Irving Medical Center","RECRUITING","New York","10032","United States","US",{"type":36,"coordinates":37},"Point",[38,39],-74.00597,40.71427,{"lat":39,"lon":38},[42,45],{"name":43,"role":21,"phone":10,"phoneExt":10,"email":44},"Study Team","hnrnp@columbia.edu",{"name":25,"role":21,"phone":10,"phoneExt":10,"email":26},{"type":47,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[49,51,53,55],{"name":50,"class":6},"Simons Foundation",{"name":52,"class":6},"New York University",{"name":54,"class":6},"Hackensack Meridian Health",{"name":56,"class":6},"Universitätsklinikum Hamburg-Eppendorf","100323523","longitudinal-study-of-neurogenetic-disorders-100323523",false,"NCT03492060","Longitudinal Study of Neurogenetic Disorders","Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies","Inclusion Criteria:\n\n* Individuals must have had whole genome\u002Fexome sequencing and have a confirmed variant in any gene.\n\nExclusion Criteria:\n\n* Subjects who cannot provide genetic confirmation of a predicted deleterious variant in any gene.","ALL",{"count":66,"type":67},1000,"ESTIMATED","5 Years","OBSERVATIONAL","The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.",[72,73,74,75,76,77,78],"Neurodevelopmental Disorders","Intellectual Disability","Developmental Delay","Autism Spectrum Disorder","Seizures","Hypertonia, Muscle","Hypotonia",[80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103],"Gene Variant","HNRNPA1","HNRNPA2","HNRNPB1","HNRNPC1","HNRNPC2","HNRNPD","HNRNPE1","HNRNPE2","HNRNPE3","HNRNPE4","HNRNPG","HNRNPH1","HNRNPH2","HNRNPI","HNRNPK","HNRNPL","HNRNPM","HNRNPP","HNRNPQ1","HNRNPQ2","HNRNPQ3","HNRNPR","HNRNPU","2025-10-24",{"date":106,"type":107},"2025-10-27","ACTUAL",{"date":109,"type":107},"2018-06-13",{"date":111,"type":67},"2030-12",{"name":5,"class":6},1]