[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rcdp---rhizomelic-chondrodysplasia-punctata\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rcdp---rhizomelic-chondrodysplasia-punctata":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,66],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":33,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":54,"lastUpdatePostDateStruct":55,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":65},"100183806","longitudinal-natural-history-study-of-patients-with-peroxisome-biogenesis-disorders-pbd-100183806",false,"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","ALL",{"count":17,"type":18},244,"ESTIMATED","OBSERVATIONAL","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.",[22,23,24,25,26,27,28,29,30,31,32],"Peroxisome Biogenesis Disorder","Zellweger Spectrum 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",[34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52],"Peroxisome biogenesis disorders","PBD","Zellweger spectrum disorder","Rhizomelic chondrodysplasia punctata","DBP","ACOX1","AMACR","ARD","ACBD5","ZSD","RCDP","ACOX2","ABCD3","Adult Refsum","PHYH","SCPx","RCDP1","RCDP2","RCDP3","RECRUITING","2025-12-03",{"date":56,"type":57},"2025-12-10","ACTUAL",{"date":59,"type":57},"2012-01",{"date":61,"type":18},"2031-01",{"name":63,"class":64},"McGill University Health Centre\u002FResearch Institute of the McGill University Health Centre","OTHER",1,{"id":67,"slug":68,"hasResults":11,"nctId":69,"briefTitle":70,"officialTitle":71,"acronym":4,"eligibilityCriteria":72,"healthyVolunteers":11,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":73,"targetDuration":75,"studyType":19,"phases":4,"briefSummary":76,"conditions":77,"keywords":4,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":65},"100406188","rhizomelic-chondrodysplasia-punctata-registry-100406188","NCT04569162","Rhizomelic Chondrodysplasia Punctata Registry","Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health","Inclusion Criteria:\n\n* Diagnosed with RCDP or closely related conditions by metabolic and\u002For genetic testing\n\nExclusion Criteria:\n\n* Not meeting diagnosis of RCDP or closely related conditions by study team physician review of prior metabolic and\u002For genetic testing",{"count":74,"type":18},100,"5 Years","The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.",[24,50,51,52,78,79],"RCDP4","RCDP5","2025-07-08",{"date":82,"type":57},"2025-07-11",{"date":84,"type":57},"2013-05-17",{"date":86,"type":18},"2030-01-01",{"name":88,"class":64},"Nemours Children's Clinic"]