[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100409561":3},{"organization":4,"armGroups":7,"interventions":66,"overallOfficials":71,"centralContacts":76,"locations":84,"responsibleParty":103,"collaborators":10,"id":106,"slug":107,"hasResults":108,"nctId":109,"briefTitle":110,"officialTitle":111,"acronym":10,"eligibilityCriteria":112,"healthyVolunteers":108,"sex":113,"minAge":10,"maxAge":10,"enrollmentInfo":114,"targetDuration":117,"studyType":118,"phases":10,"briefSummary":119,"conditions":120,"keywords":129,"overallStatus":87,"whyStopped":10,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":167,"completionDateStruct":169,"leadSponsor":171,"locationsCount":172},{"fullName":5,"class":6},"Universitätsklinikum Hamburg-Eppendorf","OTHER",[8,14,18,22,26,30,34,38,42,46,50,54,58,62],{"label":9,"type":10,"description":11,"interventionNames":12},"CLN1 Disease, Haltia-Santavuori Disease",null,"Patients with genetic mutations in the CLN1\u002FPPT1 gene, causing a lysosomal enzyme deficiency of PPT1.",[13],"Other: Natural History",{"label":15,"type":10,"description":16,"interventionNames":17},"CLN2 Disease, Jansky-Bielschowsky Disease","Patients with genetic mutations in the CLN2\u002FTPP1 gene, causing a lysosomal enzyme deficiency of TTP1.",[13],{"label":19,"type":10,"description":20,"interventionNames":21},"CLN2 Disease - ERT (Brineura) treated","Patients with genetic mutations in the CLN2\u002FTPP1 gene, causing a lysosomal enzyme deficiency of TTP1, previously and\u002For currently receiving enzyme-replacement therapy (ERT) with Cerliponase alpha (Brineura).",[13],{"label":23,"type":10,"description":24,"interventionNames":25},"CLN3 Disease, Spielmeyer-Vogt-Sjögren-Batten Disease","Patients with genetic mutations in the CLN3 gene.",[13],{"label":27,"type":10,"description":28,"interventionNames":29},"CLN4 disease, Parry disease","Patients with genetic mutations in the CLN4\u002FDNAJC5 gene.",[13],{"label":31,"type":10,"description":32,"interventionNames":33},"CLN5 Disease","Patients with genetic mutations in the CLN5 gene.",[13],{"label":35,"type":10,"description":36,"interventionNames":37},"CLN6 Disease, Kufs Disease Type A","Patients with genetic mutations in the CLN6 gene.",[13],{"label":39,"type":10,"description":40,"interventionNames":41},"CLN7 Disease","Patients with genetic mutations in the CLN7\u002FMFSD8 gene.",[13],{"label":43,"type":10,"description":44,"interventionNames":45},"CLN8 Disease","Patients with genetic mutations in the CLN8 gene.",[13],{"label":47,"type":10,"description":48,"interventionNames":49},"CLN10 Disease","Patients with genetic mutations in the CLN10\u002FCTSD gene, causing a lysosomal enzyme deficiency of Cathepsin D.",[13],{"label":51,"type":10,"description":52,"interventionNames":53},"CLN11 Disease","Patients with genetic mutations in the CLN11\u002FGRN gene.",[13],{"label":55,"type":10,"description":56,"interventionNames":57},"CLN12 Disease","Patients with genetic mutations in the CLN12\u002FATP13A2 gene.",[13],{"label":59,"type":10,"description":60,"interventionNames":61},"CLN13 Disease, Kufs Disease Type B","Patients with genetic mutations in the CLN13\u002FCTSF gene, causing a lysosomal enzyme deficiency of Cathepsin F.",[13],{"label":63,"type":10,"description":64,"interventionNames":65},"CLN14 Disease","Patients with genetic mutations in the CLN14\u002FKCTD7 gene.",[13],[67],{"type":6,"name":68,"description":69,"armGroupLabels":70,"otherNames":10},"Natural History","Natural History and Clinical Follow Up.",[9,47,51,55,59,63,19,15,23,27,31,35,39,43],[72],{"name":73,"affiliation":74,"role":75},"Angela Schulz, MD, PhD","Head of NCL-Specialty Clinic","PRINCIPAL_INVESTIGATOR",[77,82],{"name":78,"role":79,"phone":80,"phoneExt":10,"email":81},"Miriam Nickel, MD","CONTACT","+4940741020440","m.nickel@uke.de",{"name":73,"role":79,"phone":80,"phoneExt":10,"email":83},"anschulz@uke.de",[85],{"facility":86,"status":87,"city":88,"state":10,"zip":89,"country":90,"countryCode":91,"cosmosGeoPoint":92,"geoPoint":97,"contacts":98},"University Medical Center Hamburg-Eppendorf","RECRUITING","Hamburg","20246","Germany","DE",{"type":93,"coordinates":94},"Point",[95,96],9.99302,53.55073,{"lat":96,"lon":95},[99,100,101,102],{"name":78,"role":79,"phone":80,"phoneExt":10,"email":81},{"name":73,"role":79,"phone":80,"phoneExt":10,"email":83},{"name":73,"role":75,"phone":10,"phoneExt":10,"email":10},{"name":78,"role":75,"phone":10,"phoneExt":10,"email":10},{"type":75,"investigatorFullName":104,"investigatorTitle":105,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"Angela Schulz","MD, PhD, Head of NCL Specialty Clinic","100409561","natural-history-and-longitudinal-clinical-assessments-in-ncl--batten-disease-the-international-dem-child-database-100409561",false,"NCT04613089","Natural History and Longitudinal Clinical Assessments in NCL \u002F Batten Disease, the International DEM-CHILD Database","Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database","Inclusion Criteria:\n\n\\- Patients with a confirmed molecular diagnosis of a form of NCL Disease\n\nAdditional inclusion criteria for Group\u002FCohort: \"CLN2 Disease - ERT (Brineura) Treated\":\n\n* Documented diagnosis of TPP1 deficiency\n* Previous or current treatment with intracerebroventricular ERT with cerliponase alpha\n* Patients that are currently participating in post-marketing studies will be allowed to participate.\n\nExclusion Criteria:\n\n\\- Patients with no confirmed molecular diagnosis of a form of NCL Disease","ALL",{"count":115,"type":116},500,"ESTIMATED","30 Years","OBSERVATIONAL","This is an observational study that aims at assessing the natural history of NCL diseases as part of the international DEM-CHILD Database.\n\n1. Patient data are collected from medical records, patient questionnaires and routine follow up clinical examinations with focus on assessing progression in key areas of disease such as motor, language, cognition, seizures, vision, and behavior.\n2. A local biorepository of samples from genetically defined NCL patients will be established as well as a virtual biorepository within the DEM-CHILD DB to be able to easily localize international availability of patient samples.",[121,122,123,124,125,126,31,127,39,43,47,51,55,128,63],"Neuronal Ceroid Lipofuscinosis","Batten Disease","CLN1 Disease","CLN2 Disease","CLN3 Disease","CLN4 Disease","CLN6 Disease","CLN13 Disease",[130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162],"INCL","LINCL","VLINCL","JNCL","ANCL","NCL","CLN","Batten","Childhood Dementia","Lysosomal Storage Diseases","Neurodegenerative Diseases","Neurodegenerative Disorders","Metabolic Disorders","PME","EPMR","SCAR7","SGSH","PPT1","Haltia-Santavuori Disease","TPP1","Jansky-Bielschowsky Disease","Spielmeyer-Vogt-Sjögren-Batten Disease","DNAJC5","Parry Disease","Kufs Disease Type A","MFSD8","CTSD","GRN","ATP13A2","Kufor-Rakeb Syndrome","CTSF","Kufs Disease Type B","KCTD7","2021-10-22",{"date":165,"type":166},"2021-10-29","ACTUAL",{"date":168,"type":166},"2020-04-08",{"date":170,"type":116},"2050-04-08",{"name":5,"class":6},1]