[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100406188":3},{"organization":4,"outcomesModule":7,"designInfo":17,"detailedDescription":19,"studyPopulation":20,"armGroups":16,"interventions":16,"overallOfficials":21,"centralContacts":26,"locations":32,"responsibleParty":49,"collaborators":52,"id":56,"slug":16,"hasResults":57,"nctId":58,"briefTitle":59,"officialTitle":60,"acronym":16,"eligibilityCriteria":61,"healthyVolunteers":57,"sex":62,"minAge":16,"maxAge":16,"enrollmentInfo":63,"targetDuration":66,"studyType":67,"phases":16,"briefSummary":68,"conditions":69,"keywords":16,"overallStatus":34,"whyStopped":16,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":80,"completionDateStruct":82,"leadSponsor":84,"locationsCount":85},{"fullName":5,"class":6},"Nemours Children's Clinic","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":16,"otherOutcomes":16},[9,13],{"measure":10,"description":11,"timeFrame":12},"Characterizations of the natural history of rhizomelic chondrodysplasia punctata","Data will be collected at enrollment, and over time, to allow for analysis of associated features throughout the lifespan","5 years",{"measure":14,"description":15,"timeFrame":12},"Identification of clinical features that are predictive of poor outcomes","Identifying risk factors will allow for preventative treatments and thus a better quality of life for individuals with RCDP.",null,{"allocation":16,"interventionModel":16,"interventionModelDescription":16,"primaryPurpose":16,"observationalModel":18,"timePerspective":6,"maskingInfo":16},"CASE_ONLY","The goal of this registry is to collect information on individuals with rhizomelic chondrodysplasia punctata (also called RCDP). This registry will enable detailed natural history studies of RCDP, with the hopes that identification of risk factors will allow for preventative treatments and thus a better quality of life for individuals with these diagnoses.\n\nThis study is limited to chart review, after signed informed consent obtained. There will be no additional visits or time in clinic because of participation in this registry. This study involves only the collection and storage of data extracted from the medical record. Records that may be requested and reviewed as a part of this study include but may not be limited to: specialist evaluations, surgical reports, results of blood and urine tests, genetic testing, x-rays, CT\u002FMRI imaging. There are no special procedures, visits, or expectations of the individual as a result of participation in this registry. No one will be asked to have any specific testing for the sole purposes of this research.","Any individual at any age with rhizomelic chondrodysplasia punctata or a closely related condition",[22],{"name":23,"affiliation":24,"role":25},"Mahim Jain, MD, PhD","Nemours","PRINCIPAL_INVESTIGATOR",[27],{"name":28,"role":29,"phone":30,"phoneExt":16,"email":31},"Emily Longenecker, BS","CONTACT","302-298-7978","emily.longenecker@nemours.org",[33],{"facility":24,"status":34,"city":35,"state":36,"zip":37,"country":38,"countryCode":39,"cosmosGeoPoint":40,"geoPoint":45,"contacts":46},"RECRUITING","Wilmington","Delaware","19803","United States","US",{"type":41,"coordinates":42},"Point",[43,44],-75.54659,39.74595,{"lat":44,"lon":43},[47,48],{"name":28,"role":29,"phone":30,"phoneExt":16,"email":31},{"name":23,"role":25,"phone":16,"phoneExt":16,"email":16},{"type":25,"investigatorFullName":50,"investigatorTitle":51,"investigatorAffiliation":5,"oldNameTitle":16,"oldOrganization":16},"Mahim Jain","Physician",[53],{"name":54,"class":55},"RhizoKids International","UNKNOWN","100406188",false,"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","ALL",{"count":64,"type":65},100,"ESTIMATED","5 Years","OBSERVATIONAL","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.",[70,71,72,73,74,75],"RCDP - Rhizomelic Chondrodysplasia Punctata","RCDP1","RCDP2","RCDP3","RCDP4","RCDP5","2025-07-08",{"date":78,"type":79},"2025-07-11","ACTUAL",{"date":81,"type":79},"2013-05-17",{"date":83,"type":65},"2030-01-01",{"name":5,"class":6},1]