[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"gemin5-protein-human\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:gemin5-protein-human":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"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":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":27,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":5},"100575750","natural-history-study-of-gemin-5-related-neurodevelopmental-disorder-100575750",false,"NCT06776341","Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder","Retrospective and Longitudinal Prospective Natural History Study of GEMIN5-Related Neurodevelopmental Disorder","Inclusion Criteria:\n\n* Individuals with molecularly confirmed GEMIN5 biallelic mutations, ages 0 years and above\n\nExclusion Criteria:\n\n* none","ALL",{"count":18,"type":19},500,"ESTIMATED","26 Years","OBSERVATIONAL","This study will include a comprehensive retrospective chart review and a longitudinal prospective observational natural history study to characterize the phenotypic spectrum of GEMIN5-Related Neurodevelopmental Disorder. We aim to define the trajectory of this ultra-rare disease, core clinical features, characteristics at disease onset and diagnosis, neurological symptomatology, and neuroimaging findings over time. In this study, biological specimens (serum) will also be collected in a biorepository for translational research purposes.",[24,25,26],"SMN Complex Proteins","GEMIN5 Protein, Human","Neurodevelopmental Disorders",[28,26],"GEMIN5","RECRUITING","2026-07-07",{"date":32,"type":33},"2026-07-09","ACTUAL",{"date":35,"type":33},"2025-07-07",{"date":37,"type":19},"2050-12",{"name":39,"class":40},"University of Pittsburgh","OTHER"]