[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neuronal-ceroid-lipofuscinosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neuronal-ceroid-lipofuscinosis":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,49,71,100],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":25,"conditions":26,"keywords":32,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100640347","phase-1-gene-therapy-trial-for-cln6-batten-disease-100640347",false,"NCT07582484","Gene Therapy Trial for CLN6 Batten Disease","Phase 1\u002F2b Gene Transfer Clinical Trial for Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Batten Disease), Delivering the CLN6 Gene by Self-Complementary AAV9","Inclusion Criteria:\n\n* Diagnosis of CLN6\n* At least 4 months old\n\nExclusion Criteria:\n\n* Presence of another inherited neurologic disease\n* Prior stem cell transplantation\n* Prior gene transfer, gene editing, or viral vector therapy","ALL","4 Months",{"count":19,"type":20},12,"ESTIMATED","INTERVENTIONAL",[23,24],"PHASE1","PHASE2","The goal of this clinical trial is to learn if a gene therapy called scAAV9.CB.CLN6 can treat children with CLN6 Batten disease (variant late infantile neuronal ceroid lipofuscinosis). The main questions it aims to answer are if he gene therapy safe and well tolerated, and if the gene therapy help slow disease progression or improve symptoms.\n\nParticipants will:\n\nReceive a single dose of the gene therapy through an injection into the fluid around the spinal cord (intrathecal administration) Have regular study visits over 2 years for safety checks and assessments of disease progression Be followed for an additional 3 years in a long-term follow-up study",[27,28,29,30,31],"CLN6","Batten Disease","Batten's Disease","Neuronal Ceroid Lipofuscinosis CLN6","Neuronal Ceroid Lipofuscinosis",[27,33,34,35,31],"CLN6 Batten","Batten","Batten's","NOT_YET_RECRUITING","2026-05-12",{"date":39,"type":40},"2026-05-14","ACTUAL",{"date":42,"type":20},"2026-08",{"date":44,"type":20},"2028-08",{"name":46,"class":47},"The Charlotte and Gwenyth Gray Foundation","OTHER",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":55,"targetDuration":57,"studyType":58,"phases":4,"briefSummary":59,"conditions":60,"keywords":4,"overallStatus":61,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":48},"100581020","italian-ncl-registry-a-registry-for-ncl-as-an-integration-tool-for-future-therapeutic-strategies-100581020","NCT06844877","Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies","Inclusion Criteria:\n\n* genetically confirmed diagnosis of neuronal ceroid lipofuscinosis\n* participants\u002Fparents\u002Flegal guardians will have to give informed consent for enrollment in the registry and privacy data management\n\nExclusion Criteria:\n\n* subjects affected by other forms of neurodegenerative diseases.\n* lack of informed consent",{"count":56,"type":20},50,"10 Years","OBSERVATIONAL","The goal is to create a solid and harmonious disease registry of patient affected by neuronal ceroid lipofuscinosis (NCLs) that facilitates the collection and management of patients' data over time encouraging the research and the development of future clinical trials. In-depth clinical phenotyping will develop significant clinical outcome measures that can be used in clinical trials and will allow the phenotypic complexity of the disease to be captured with the use of validated clinical scales, biomarkers and so-called patient reported outcomes (PROs).",[31],"RECRUITING","2026-03-23",{"date":64,"type":40},"2026-03-27",{"date":66,"type":40},"2024-07-19",{"date":68,"type":20},"2027-07-19",{"name":70,"class":47},"IRCCS Fondazione Stella Maris",{"id":72,"slug":73,"hasResults":11,"nctId":74,"briefTitle":75,"officialTitle":75,"acronym":4,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":77,"targetDuration":57,"studyType":58,"phases":4,"briefSummary":79,"conditions":80,"keywords":88,"overallStatus":61,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":48},"100199549","clinical-and-neuropsychological-investigations-in-batten-disease-100199549","NCT01873924","Clinical and Neuropsychological Investigations in Batten Disease","Inclusion Criteria:\n\n* child or adult with any form of Batten disease\n* parent or legal guardian of a child or adult with any form of Batten disease\n\nExclusion Criteria:\n\n\\- parent or guardian unable or unwilling to provide permission for the affected individual",{"count":78,"type":20},500,"This study aims to assess the natural history of Batten disease (Neuronal Ceroid Lipofuscinosis) by obtaining information about the motor, behavioral, and functional capabilities of individuals with Batten disease. This study will also refine and validate the Unified Batten Disease Rating Scale (UBDRS) as a clinical rating instrument for Batten disease.",[31,81,82,83,84,30,85,86,87,28],"Neuronal Ceroid Lipofuscinosis CLN1","Neuronal Ceroid Lipofuscinosis CLN2","Neuronal Ceroid Lipofuscinosis CLN3","Neuronal Ceroid Lipofuscinosis CLN5","Neuronal Ceroid Lipofuscinosis CLN7","Neuronal Ceroid Lipofuscinosis CLN8","Neuronal Ceroid Lipofuscinosis CLN10",[89,90,31],"Batten disease","NCL","2025-09-05",{"date":93,"type":40},"2025-09-12",{"date":95,"type":4},"2004-08",{"date":97,"type":20},"2035-08",{"name":99,"class":47},"University of Rochester",{"id":101,"slug":102,"hasResults":11,"nctId":103,"briefTitle":104,"officialTitle":105,"acronym":4,"eligibilityCriteria":106,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":107,"targetDuration":108,"studyType":58,"phases":4,"briefSummary":109,"conditions":110,"keywords":124,"overallStatus":61,"whyStopped":4,"lastUpdateSubmitDate":156,"lastUpdatePostDateStruct":157,"startDateStruct":159,"completionDateStruct":161,"leadSponsor":163,"locationsCount":48},"100409561","natural-history-and-longitudinal-clinical-assessments-in-ncl--batten-disease-the-international-dem-child-database-100409561","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",{"count":78,"type":20},"30 Years","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.",[31,28,111,112,113,114,115,116,117,118,119,120,121,122,123],"CLN1 Disease","CLN2 Disease","CLN3 Disease","CLN4 Disease","CLN5 Disease","CLN6 Disease","CLN7 Disease","CLN8 Disease","CLN10 Disease","CLN11 Disease","CLN12 Disease","CLN13 Disease","CLN14 Disease",[125,126,127,128,129,90,130,34,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155],"INCL","LINCL","VLINCL","JNCL","ANCL","CLN","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":158,"type":40},"2021-10-29",{"date":160,"type":40},"2020-04-08",{"date":162,"type":20},"2050-04-08",{"name":164,"class":47},"Universitätsklinikum Hamburg-Eppendorf"]