[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100430075":3},{"organization":4,"armGroups":7,"interventions":18,"overallOfficials":10,"centralContacts":23,"locations":34,"responsibleParty":54,"collaborators":10,"id":56,"slug":10,"hasResults":57,"nctId":58,"briefTitle":59,"officialTitle":60,"acronym":10,"eligibilityCriteria":61,"healthyVolunteers":57,"sex":62,"minAge":63,"maxAge":10,"enrollmentInfo":64,"targetDuration":10,"studyType":67,"phases":10,"briefSummary":68,"conditions":69,"keywords":76,"overallStatus":37,"whyStopped":10,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":108},{"fullName":5,"class":6},"Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta","OTHER",[8,14],{"label":9,"type":10,"description":11,"interventionNames":12},"Retrospective study",null,"collection of retrospective data from adult patients with ultra-rare inherited neurological diseases",[13],"Other: collection of data",{"label":15,"type":10,"description":16,"interventionNames":17},"Prospective study","prospective data will be collected starting from March 2021 (date of protocol approval) and spanning the next ten years",[13],[19],{"type":6,"name":20,"description":21,"armGroupLabels":22,"otherNames":10},"collection of data","collection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases",[15,9],[24,30],{"name":25,"role":26,"phone":27,"phoneExt":28,"email":29},"Ettore Salsano, MD","CONTACT","+39022394","3001","ettore.salsano@istituto-besta.it",{"name":31,"role":26,"phone":27,"phoneExt":32,"email":33},"Renato Mantegazza, MD","2321","crc@istituto-besta.it",[35],{"facility":36,"status":37,"city":38,"state":39,"zip":40,"country":41,"cosmosGeoPoint":42,"geoPoint":47,"contacts":48},"Fondazione IRCCS Istituto Neurologico Carlo Besta","RECRUITING","Milan","Milano","20133","Italy",{"type":43,"coordinates":44},"Point",[45,46],12.59836,42.78235,{"lat":46,"lon":45},[49,53],{"name":50,"role":26,"phone":27,"phoneExt":51,"email":52},"Elena Mauro, MD","2388","elena.mauro@istituto-besta.it",{"name":25,"role":26,"phone":10,"phoneExt":10,"email":10},{"type":55,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100430075",false,"NCT04880356","Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.","Clinical, Instrumental and Laboratory Data Collection of Subjects with Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases","Inclusion Criteria:\n\n* Age \\>= 18 years\n* Subjects with ultra-rare inherited degenerative and metabolic neurological diseases\n* Subjects with undiagnosed neurological diseases (when supposed to be inherited)\n\nExclusion Criteria:\n\n* none","ALL","18 Years",{"count":65,"type":66},100,"ESTIMATED","OBSERVATIONAL","General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.",[70,71,72,73,74,75],"Inherited Disease","Rare Diseases","Metabolic Disease","Undiagnosed Disease","Neurologic Disorder","Neuro-Degenerative Disease",[77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98],"Leukodystrophies,","Adrenoleukodystrophy,","Metachromatic leukodystrophy,","Krabbe disease,","Vanishing White Matter Syndrome,","Alexander disease,","Hereditary Leukodystrophy with Spheroids (CSF1R-related HLDS),","Nasu-Hakola disease (TREM2- and TYROBP-related disease)","Leukoencephalopathy, progressive, with ovarian failure (LKENP, AARS2-related),","Pelizaeus-Merzbacher disease,","Pelizaeus-Merzbacher-like disease,","Hypomyelinating leukodystrophies,","Leukodystrophies with calcifications and cysts (LCC),","Leukoencephalopathy with ataxia disease (LKPAT, CLCN2-related),","L-2-Hydroxyglutaric aciduria,","Polyglucosan bodies disease,","Methylmalonic acidemia with homocystinuria,","Niemann-pick type C,","Fahr's disease,","Wilson's disease,","Cerebrotendinous Xanthomatosis,","Sphingolipidoses","2024-11-15",{"date":101,"type":102},"2024-11-19","ACTUAL",{"date":104,"type":102},"2021-03-01",{"date":106,"type":66},"2031-03",{"name":5,"class":6},1]