[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100504435":3},{"organization":4,"armGroups":7,"interventions":15,"overallOfficials":24,"centralContacts":29,"locations":35,"responsibleParty":51,"collaborators":53,"id":60,"slug":10,"hasResults":61,"nctId":62,"briefTitle":63,"officialTitle":64,"acronym":10,"eligibilityCriteria":65,"healthyVolunteers":61,"sex":66,"minAge":10,"maxAge":10,"enrollmentInfo":67,"targetDuration":10,"studyType":70,"phases":10,"briefSummary":71,"conditions":72,"keywords":80,"overallStatus":37,"whyStopped":10,"lastUpdateSubmitDate":86,"lastUpdatePostDateStruct":87,"startDateStruct":90,"completionDateStruct":92,"leadSponsor":94,"locationsCount":95},{"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,"cosmosGeoPoint":42,"geoPoint":47,"contacts":48},"RECRUITING","San Diego","California","92093","United States",{"type":43,"coordinates":44},"Point",[45,46],-117.16472,32.71571,{"lat":46,"lon":45},[49],{"name":31,"role":32,"phone":33,"phoneExt":10,"email":50},"leeeh80@gmail.com",{"type":28,"investigatorFullName":26,"investigatorTitle":52,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"professor, neuroscience",[54,56,58],{"name":55,"class":6},"New York University",{"name":57,"class":6},"Universität Tübingen",{"name":59,"class":6},"Heinrich-Heine University, Duesseldorf","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":68,"type":69},50,"ESTIMATED","OBSERVATIONAL","This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations",[73,74,75,76,77,78,79],"Mitochondrial Encephalomyopathies","Hereditary Spastic Paraplegia","Spastic Paraplegia","White Matter Disease","Neonatal Encephalopathy","Mutation","Genetic Disease",[81,82,83,84,85],"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":88,"type":89},"2025-03-30","ACTUAL",{"date":91,"type":89},"2023-05-18",{"date":93,"type":69},"2027-12-31",{"name":5,"class":6},1]