[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"zellweger-spectrum-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:zellweger-spectrum-disorder":23},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,41],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":24,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":29,"lastUpdatePostDateStruct":30,"startDateStruct":33,"completionDateStruct":35,"leadSponsor":37,"locationsCount":40},"100530733","longitudinal-prospective-natural-history-study-of-retinopathy-in-zellweger-spectrum-disorder-100530733",false,"NCT06190626","Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder","ZSDvision","Inclusion Criteria:\n\n* confirmed ZSD with deleterious variants in PEX genes identified\n* confirmed or expected retinal involvement\n\nExclusion Criteria:\n\n* unable to perform a minimum of one vision test\n* severe ZSD disease","ALL",{"count":18,"type":19},30,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort.\n\nThe objective of this study is to gather information so the investigators can:\n\n1. define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration\n2. define what tests best monitor the progression of the retinal degeneration\n3. generate prognostic information about vision loss in ZSD.\n\nAt each yearly visit, the participants will answer a functional vision questionnaire, have a physical evaluation, blood test, and participate in a variety of vision tests. The investigators will also collect pertinent medical history.\n\nParticipants will travel to study site. The study will provide financial support for board and travel.",[23],"Zellweger Spectrum Disorder",[25,26,27],"ZSD","PEX gene mutation","Retinopathy","RECRUITING","2026-01-19",{"date":31,"type":32},"2026-01-21","ACTUAL",{"date":34,"type":32},"2023-12-18",{"date":36,"type":19},"2029-01-01",{"name":38,"class":39},"McGill University Health Centre\u002FResearch Institute of the McGill University Health Centre","OTHER",3,{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":47,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":49,"conditions":50,"keywords":61,"overallStatus":28,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":88},"100183806","longitudinal-natural-history-study-of-patients-with-peroxisome-biogenesis-disorders-pbd-100183806","NCT01668186","Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)","Inclusion Criteria:\n\n* Diagnosis of PBD or\n* Single peroxisome enzyme\u002Fprotein defect with phenotype similar to PBD\n\nExclusion Criteria:\n\n* Not a PBD\n* Not a single peroxisome enzyme\u002Fprotein defect with phenotype similar to PBD",{"count":48,"type":19},244,"The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. For patients who are unable to attend our clinic, we will collect all medical records and images since birth as well as subsequent records\u002Fimages for the next 5 years or until the end of the study. Clinical data from medical records will be banked in our Peroxisomal Disorder Research Databank and Biobank. The investigators will use this information to identify standards of care and improve management.",[51,23,52,53,54,55,56,57,58,59,60],"Peroxisome Biogenesis Disorder","RCDP - Rhizomelic Chondrodysplasia Punctata","D-Bifunctional Protein Deficiency","Alpha-Methylacyl-CoA Racemase Deficiency","Peroxisomal Acyl-CoA Oxidase Deficiency","Peroxisomal Acyl-CoA Oxidase 2 Deficiency","ATP Binding Cassette Subfamily D Member 3 Gene Mutation","ACBD5 (AcylCoA Binding Domain 5) Deficiency","Adult Refsum Disease","Sterol Carrier Protein 2 Deficiency",[62,63,64,65,66,67,68,69,70,25,71,72,73,74,75,76,77,78,79],"Peroxisome biogenesis disorders","PBD","Zellweger spectrum disorder","Rhizomelic chondrodysplasia punctata","DBP","ACOX1","AMACR","ARD","ACBD5","RCDP","ACOX2","ABCD3","Adult Refsum","PHYH","SCPx","RCDP1","RCDP2","RCDP3","2025-12-03",{"date":82,"type":32},"2025-12-10",{"date":84,"type":32},"2012-01",{"date":86,"type":19},"2031-01",{"name":38,"class":39},1]