[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100504435":3},{"organization":4,"armGroups":7,"interventions":15,"overallOfficials":24,"centralContacts":29,"locations":35,"responsibleParty":52,"collaborators":54,"id":61,"slug":62,"hasResults":63,"nctId":64,"briefTitle":65,"officialTitle":66,"acronym":10,"eligibilityCriteria":67,"healthyVolunteers":63,"sex":68,"minAge":10,"maxAge":10,"enrollmentInfo":69,"targetDuration":10,"studyType":72,"phases":10,"briefSummary":73,"conditions":74,"keywords":82,"overallStatus":37,"whyStopped":10,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":92,"completionDateStruct":94,"leadSponsor":96,"locationsCount":97},{"fullName":5,"class":6},"University of California, San Diego","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"HPDL deficiency",null,"Patients with HPDL mutations",[13,14],"Other: Patient Registry","Other: Dry blood spots sampling",[16,20],{"type":6,"name":17,"description":18,"armGroupLabels":19,"otherNames":10},"Patient Registry","Participants who have been diagnosed with HPDL mutations will be enrolled to patient registry.",[9],{"type":6,"name":21,"description":22,"armGroupLabels":23,"otherNames":10},"Dry blood spots sampling","Dry blood splots require 500nl of blood.",[9],[25],{"name":26,"affiliation":27,"role":28},"Joseph Gleeson","UCSD","PRINCIPAL_INVESTIGATOR",[30],{"name":31,"role":32,"phone":33,"phoneExt":10,"email":34},"Eun Hae Lee","CONTACT","8582460547","gleesonlab@health.ucsd.edu",[36],{"facility":31,"status":37,"city":38,"state":39,"zip":40,"country":41,"countryCode":42,"cosmosGeoPoint":43,"geoPoint":48,"contacts":49},"RECRUITING","San Diego","California","92093","United States","US",{"type":44,"coordinates":45},"Point",[46,47],-117.16472,32.71571,{"lat":47,"lon":46},[50],{"name":31,"role":32,"phone":33,"phoneExt":10,"email":51},"leeeh80@gmail.com",{"type":28,"investigatorFullName":26,"investigatorTitle":53,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"professor, neuroscience",[55,57,59],{"name":56,"class":6},"New York University",{"name":58,"class":6},"Universität Tübingen",{"name":60,"class":6},"Heinrich-Heine University, Duesseldorf","100504435","natural-history-study-of-patients-with-hpdl-mutations-100504435",false,"NCT05848271","Natural History Study of Patients with HPDL Mutations","A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations","Inclusion Criteria:\n\n* Any individuals diagnosed with HPDL variants\n* Clinical diagnosis can include:\n\n  * HPDL-related hereditary spastic paraplegia (HSP)\n  * HPDL-related neonatal mitochondrial encephalopathy\n  * Spastic paraplegia -83 (SPG83)\n  * Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)\n\nExclusion Criteria:\n\n* Any known genetic abnormality (other than HPDL mutation)\n* Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and\u002For would ultimately prevent the completion of study procedures","ALL",{"count":70,"type":71},50,"ESTIMATED","OBSERVATIONAL","This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations",[75,76,77,78,79,80,81],"Mitochondrial Encephalomyopathies","Hereditary Spastic Paraplegia","Spastic Paraplegia","White Matter Disease","Neonatal Encephalopathy","Mutation","Genetic Disease",[83,84,85,86,87],"HPDL","HPDL related neonatal mitochondrial encephalopathy","HPDL related hereditary spastic paraplegia","Spastic paraplegia-83","Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities","2025-03-25",{"date":90,"type":91},"2025-03-30","ACTUAL",{"date":93,"type":91},"2023-05-18",{"date":95,"type":71},"2027-12-31",{"name":5,"class":6},1]