[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rett-syndrome-atypical\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rett-syndrome-atypical":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,56],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":23,"studyType":24,"phases":4,"briefSummary":25,"conditions":26,"keywords":37,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100472474","rett-syndrome-registry-100472474",false,"NCT05432349","Rett Syndrome Registry","Rett Syndrome Real World Data Observational Registry","RSR","Inclusion Criteria:\n\n* Male or female with a pathologic loss of function alteration of MECP2\n\nExclusion Criteria:\n\n* Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication","ALL","0 Years","99 Years",{"count":21,"type":22},3000,"ESTIMATED","5 Years","OBSERVATIONAL","The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.",[27,28,29,30,31,32,33,34,35,36],"Rett Syndrome","Rett Syndrome, Atypical","Genetic Disease","Genetic Diseases, X-Linked","Intellectual Disability","Neurobehavioral Manifestations","Neurologic Manifestations","Neurologic Disorder","Neurodevelopmental Disorders","Nervous System Diseases",[38,39,40,41,42],"Rett syndrome","MECP2","Neurodevelopmental disorder","Registry","Natural History Study","RECRUITING","2026-06-26",{"date":46,"type":47},"2026-06-30","ACTUAL",{"date":49,"type":47},"2022-08-02",{"date":51,"type":22},"2028-07",{"name":53,"class":54},"International Rett Syndrome Foundation","OTHER",19,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":4,"eligibilityCriteria":62,"healthyVolunteers":63,"sex":64,"minAge":65,"maxAge":66,"enrollmentInfo":67,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":69,"conditions":70,"keywords":72,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":79,"completionDateStruct":81,"leadSponsor":83,"locationsCount":85},"100510911","neurophysiologic-biomarkers-in-rett-syndrome-100510911","NCT05932589","Neurophysiologic Biomarkers in Rett Syndrome","Characterization of Translatable Neurophysiological Biomarkers to Enhance Therapeutic Development in Rett Syndrome","Inclusion Criteria:\n\n1. Rett Group: Females ages 3-18 (inclusive) with a clinical diagnosis of RTT with a likely pathogenic or known pathogenic variant in MECP2.\n2. Likely Rett Group: Females from 1 year to \\\u003C 5 years of age with MECP2 variant if regression has not yet occurred or child is within 6 months of last skill loss.\n3. Typically developing (TD) Group: Females age matched to RTT population (1-18) with no developmental or cognitive concerns as assessed using the Child\u002FAdult Behavioral Checklist, Survey of Well-Being of Young Children (\\\u003C5yo), or the Wide Range Achievement Test-4 (\\>5 yo).\n\nExclusion Criteria:\n\nRett and Likely Rett Groups:\n\n1. Presence of a duplication in MECP2 or any other identified pathogenic mutation in another gene.\n2. Active medical conditions not typically found in RTT.\n\nTypically Developing Group:\n\n1. Score below norms on the performance tests\n2. Have a known neurological disorder (excluding migraine)\n3. Being on neuroactive medications.",true,"FEMALE","1 Year","18 Years",{"count":68,"type":22},202,"The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are:\n\n* Do these biomarkers change during clinical changes in individuals with RTT?\n* Are biomarkers stable over time in clinically stable individuals?\n* Do these biomarkers correlate with severity of RTT?\n\nParticipants will be asked to undergo an electroencephalogram (EEG) with measurements of Evoked Potentials (EP) to measure electrical activity in the brain.\n\nResearchers will compare findings in individuals with RTT to those in typically developing individuals to see if there are differences between the two groups.",[27,71,28],"RTT",[73,74,75,39],"Biomarker","EEG","Evoked Potentials","2025-10-17",{"date":78,"type":47},"2025-10-20",{"date":80,"type":47},"2023-10-11",{"date":82,"type":22},"2029-03-31",{"name":84,"class":54},"Children's Hospital of Philadelphia",6]