[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spastic-paraplegia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spastic-paraplegia":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,49,78,109],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":30,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"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":18,"type":19},50,"ESTIMATED","OBSERVATIONAL","This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations",[23,24,25,26,27,28,29],"Mitochondrial Encephalomyopathies","Hereditary Spastic Paraplegia","Spastic Paraplegia","White Matter Disease","Neonatal Encephalopathy","Mutation","Genetic Disease",[31,32,33,34,35],"HPDL","HPDL related neonatal mitochondrial encephalopathy","HPDL related hereditary spastic paraplegia","Spastic paraplegia-83","Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities","RECRUITING","2025-03-25",{"date":39,"type":40},"2025-03-30","ACTUAL",{"date":42,"type":40},"2023-05-18",{"date":44,"type":19},"2027-12-31",{"name":46,"class":47},"University of California, San Diego","OTHER",1,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":16,"minAge":56,"maxAge":57,"enrollmentInfo":58,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":60,"conditions":61,"keywords":63,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":69,"lastUpdatePostDateStruct":70,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":48},"100528134","turkish-lower-extremity-motor-activity-log-le-mal-100528134","NCT06156813","Turkish Lower-Extremity Motor Activity Log (LE-MAL)","Validity and Reliability of Turkish Version of the Lower Extremity Motor Activity Log","Inclusion Criteria:\n\n* Individuals between the ages of 18-80 living in Gaziantep who applied to the neurology outpatient clinic of Hospital and were diagnosed with stroke.\n\nExclusion Criteria:\n\n* Patients with a history of trauma within the last year, alcohol and substance addiction, and pregnancy","18 Years","80 Years",{"count":59,"type":19},80,"The Motor Activity Log was developed to measure paretic upper extremity use in daily activities in the real-life context (real world) of people with different health conditions, including stroke. Subsequently, the Lower Extremity Motor Activity Diary was developed. This survey is a semi-structured survey in which the participant is asked to rate himself\u002Fherself according to each scale over 14 activities.",[62,25],"Stroke",[64,65,66,67,68],"LE-MAL","Spasticity","Measurement","validity","reliability","2025-03-06",{"date":71,"type":40},"2025-03-11",{"date":73,"type":40},"2023-11-15",{"date":75,"type":19},"2025-12-15",{"name":77,"class":47},"Gaziantep Islam Science and Technology University",{"id":79,"slug":80,"hasResults":11,"nctId":81,"briefTitle":82,"officialTitle":83,"acronym":4,"eligibilityCriteria":84,"healthyVolunteers":11,"sex":16,"minAge":85,"maxAge":86,"enrollmentInfo":87,"targetDuration":4,"studyType":88,"phases":89,"briefSummary":92,"conditions":93,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":48},"100479069","phase-1-melpida-recombinant-adeno-associated-virus-serotype-9-encoding-a-codon-optimized-human-ap4m1-transgene-hap4m1opt-100479069","NCT05518188","Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)","A Phase 1\u002F2 Open-label Intrathecal Administration of MELPIDA to Determine Its Safety and Efficacy for Patients with Spastic Paraplegia Type 50 (SPG50) Caused by Mutation in the AP4M1 Gene.","Inclusion Criteria:\n\n1. Age 4 months-10 years old\n2. Confirmed diagnosis of SPG50 disease by:\n\n   1. Genomic DNA mutation analysis demonstrating homozygous or compound heterozygous, confirmed pathogenic variants in the AP4M1 gene\n   2. Clinical history or examination features consistent with SPG50 and that include neurologic dysfunction\n3. Parent\u002Flegal guardian willing to provide written informed consent for their child prior to participation in the study\n4. Subject able to comply with all protocol requirements and procedures\n5. Ability to stand for more than 5 seconds OR\n6. Ability to take 5 steps independently or with a walker OR\n7. Modified Ashworth Scale score 2 or below (Ankles).\n\nExclusion Criteria:\n\n1. Inability to participate in study procedures (as determined by the site investigator)\n2. Presence of a concomitant medical condition that precludes lumbar puncture (LP) or use of anesthetics\n3. History of bleeding disorder or any other medical condition or circumstance in which lumbar puncture is contraindicated according to local institutional policy\n4. Inability to be safely sedated in the opinion of the clinical anesthesiologist\n5. Active infection, at the time of dosing, based on clinical observations\n6. Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer\n7. Inability of the patient to undergo MRI according to local institutional policy\n8. Inability of the patient to undergo any other procedure required in this study\n9. The presence of significant non-SPG50 related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study\n10. Have received an investigational drug within 30 days prior to screening or plan to receive an investigational drug (other than gene therapy) during the study.\n11. Enrollment and participation in another interventional clinical trial\n12. Contraindication to MELPIDA or any of its ingredients\n13. Contraindication to any of the immune suppression medications used in this study\n14. Clinically significant abnormal laboratory values (GGT, ALT, and AST, or total bilirubin \\> 3 × ULN, creatinine ≥ 1.5 mg\u002FdL, hemoglobin \\[Hgb\\] \\< 6 or \\> 20 g\u002FdL; white blood cell \\[WBC\\] \\> 20,000 per cmm) prior to gene replacement therapy.","4 Months","10 Years",{"count":5,"type":19},"INTERVENTIONAL",[90,91],"PHASE1","PHASE2","MELPIDA is proposed for the treatment of subjects with SPG50 and targets neuronal cells to deliver a fully functional human AP4M1 cDNA copy via intrathecal injection to counter the associated neuronal loss. Outcomes will evaluate the safety and tolerability of a single dose of MELPIDA, which will be measured by the treatment-associated adverse events (AEs) and serious adverse events (SAEs). Secondarily, the trial will explore efficacy in terms of disease burden assessments.",[94,95,96,97,98,25],"Spasticity, Muscle","Microcephaly","Intellectual Deficiency","Growth Retardation","SPG50","2024-10-04",{"date":101,"type":40},"2024-10-08",{"date":103,"type":40},"2023-02-15",{"date":105,"type":19},"2030-10-01",{"name":107,"class":108},"Elpida Therapeutics SPC","INDUSTRY",{"id":110,"slug":111,"hasResults":11,"nctId":112,"briefTitle":113,"officialTitle":113,"acronym":4,"eligibilityCriteria":114,"healthyVolunteers":115,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":116,"targetDuration":118,"studyType":20,"phases":4,"briefSummary":119,"conditions":120,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":121,"lastUpdatePostDateStruct":122,"startDateStruct":124,"completionDateStruct":126,"leadSponsor":128,"locationsCount":48},"100362992","a-registered-cohort-study-on-spastic-paraplegia-100362992","NCT04006418","A Registered Cohort Study on Spastic Paraplegia","Inclusion Criteria:\n\n* Patients with the clinical diagnosis of spastic paraplegia\n* Clinical diagnosis of patients with spastic paraplegia\n* Unrelated healthy controls\n\nExclusion Criteria:\n\n* Decline to participate.\n* There are serious interferences with individual participation and adherence to the research protocol, including but not limited to neurological, psychological, and\u002For medical conditions.",true,{"count":117,"type":19},500,"20 Years","The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias(HSP) and related disorders in a prospective multicenter natural history study, to assess the clinical, genetic and epigenetic features of patients with Spastic Paraplegias to optimize clinicalmanagement..",[25],"2022-01-16",{"date":123,"type":40},"2022-01-19",{"date":125,"type":40},"2019-07-01",{"date":127,"type":19},"2049-12",{"name":129,"class":47},"Wan-Jin Chen"]