[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100540431":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":10,"centralContacts":19,"locations":27,"responsibleParty":38,"collaborators":10,"id":42,"slug":43,"hasResults":44,"nctId":45,"briefTitle":46,"officialTitle":46,"acronym":10,"eligibilityCriteria":47,"healthyVolunteers":44,"sex":48,"minAge":49,"maxAge":50,"enrollmentInfo":51,"targetDuration":10,"studyType":54,"phases":10,"briefSummary":55,"conditions":56,"keywords":58,"overallStatus":29,"whyStopped":10,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":71},{"fullName":5,"class":6},"National Taiwan University Hospital","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Patients with sialidosis type 1",null,"Patients with a definite diagnosis of this disease are candidates for this study.",[13],"Other: Observational study",[15],{"type":6,"name":16,"description":17,"armGroupLabels":18,"otherNames":10},"Observational study","It is an observational study involving non-invasive routine examinations without treatment, thus posing no additional risk to patients. This project does not involve the use of medications, medical techniques, or the market status of medical equipment.",[9],[20,25],{"name":21,"role":22,"phone":23,"phoneExt":10,"email":24},"Chin-Hsien Lin, MD, PhD","CONTACT","886-2-23123456","chlin@ntu.edu.tw",{"name":26,"role":22,"phone":23,"phoneExt":10,"email":10},"Wuh-Liang Hwu, MD, PhD",[28],{"facility":5,"status":29,"city":30,"state":30,"zip":31,"country":32,"countryCode":33,"cosmosGeoPoint":10,"geoPoint":10,"contacts":34},"RECRUITING","Taipei","100","Taiwan","TW",[35,37],{"name":21,"role":22,"phone":36,"phoneExt":10,"email":24},"882-23123456",{"name":26,"role":22,"phone":10,"phoneExt":10,"email":10},{"type":39,"investigatorFullName":40,"investigatorTitle":41,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"PRINCIPAL_INVESTIGATOR","National Taiwan University Clinical Trial Center","Professor","100540431","the-natural-history-of-sialidosis-type-i-100540431",false,"NCT06316752","The Natural History of Sialidosis Type I","Inclusion Criteria:\n\n* Subjects must:\n\n  * Genetic diagnosis of sialidosis type I\n  * Able to tolerate a general exam and neurological exam\n  * Able to tolerate a modest amount of blood drawing\n  * Able to tolerate the complete electrophysiological studies\n  * Able to tolerate the performance of electroencephalogram and brain MRI\n  * Able to tolerate a neuropsychological testing and opathalmology evaluation\n\nExclusion Criteria:\n\n* Patients who cannot tolerate the scheduled examinations and blood drawing","ALL","12 Years","80 Years",{"count":52,"type":53},30,"ESTIMATED","OBSERVATIONAL","Sialidosis type 1 is an autosomal recessive disorder caused by bialleic NEU1 gene mutations. Patients with sialidosis type I present variable neurological and eye dysfunction and the progression rate is variable. The goal of this protocol is to assess the neurological and ophthalmological status of these patients and characterize the clinical and laboratory abnormalities in order to determine the natural history of the disease. Patients will be followed every 6 month with comprehensive clinical, neurological and ophthalmological examinations combined with neuropsychological, blood, radiological and electrophysiological tests.",[57],"Observational Study",[59,60,61],"sialidosis","NEU1 gene","Natural history","2025-05-15",{"date":64,"type":65},"2025-05-20","ACTUAL",{"date":67,"type":65},"2022-03-15",{"date":69,"type":53},"2026-12-31",{"name":5,"class":6},1]