protocolSection identificationModule nctId: NCT06346444, orgStudyIdInfo id: 2.780.113, briefTitle: Biomarkers in Rett Syndrome, acronym: BIRS, statusModule overallStatus: RECRUITING, startDateStruct date: 2020-08-03, primaryCompletionDateStruct date: 2024-02-20, completionDateStruct date: 2024-12-31, studyFirstPostDateStruct date: 2024-04-04, lastUpdatePostDateStruct date: 2024-04-04, sponsorCollaboratorsModule leadSponsor name: IRCCS Fondazione Stella Maris, class: OTHER, collaborators name: Meyer Children's Hospital IRCCS, collaborators name: Azienda USL Toscana Nord Ovest, collaborators name: University of Dublin, Trinity College, descriptionModule briefSummary: Rett syndrome (RTT) is an X-linked genetic disorder that causes severe neurological development disorder. In its classic form, it seems to affect almost exclusively females with an incidence of up to one in 10,000 females. Patients affected by Rett Syndrome can present a wide range of symptoms, in different combinations and of varying intensity, such as slowed growth of head circumference, abnormalities in walking and balance, loss of functional use of the hands often replaced by repetitive and stereotyped hand movements like "hand washing", loss of communicative-relational skills including expressive language, epilepsy, breathing abnormalities, and osteo-muscular alterations. In light of the growing potential of clinical therapies, identification and early diagnosis are considered essential. Many disease modification strategies have been achieved through translational research studies and clinical trials that have allowed the recognition of the most effective therapeutic and clinical interventions to date.This study arises from the need to advance in the understanding of the pathogenesis of RTT through a multicentric collaboration in order to (a) identify early biomarkers of RTT (b) delve into the alterations of interconnectivity, crucial for understanding the loss of motor functions and language through systematic collection of anamnestic, genetic, and clinical-instrumental data. The aim is to provide a valuable contribution to the study of the clinical phenotype of Rett and the identification of early interventions., conditionsModule conditions: Rett Syndrome, designModule studyType: OBSERVATIONAL, designInfo observationalModel: COHORT, timePerspective: PROSPECTIVE, enrollmentInfo count: 100, type: ESTIMATED, armsInterventionsModule interventions name: Diagnostic test and behavioral, outcomesModule primaryOutcomes measure: Age at diagnosis, primaryOutcomes measure: Mutation in MECP2, primaryOutcomes measure: Neuroscope alterations, primaryOutcomes measure: Electroencephalogram (EEG) alterations, primaryOutcomes measure: Brain magnetic resonance imaging (MRI) alteration, primaryOutcomes measure: Bone densitometry alterations, primaryOutcomes measure: Thoracic radiographic alterations, primaryOutcomes measure: Lumbosacral spine radiographic alterations, primaryOutcomes measure: Clinical Global Impression (CGI) scale, primaryOutcomes measure: The Rett Syndrome Behavioural Questionnaire (RSBQ), secondaryOutcomes measure: Alterations of neurovisual functions, secondaryOutcomes measure: Possibility of applying alternative forms of communication to verbal communication, eligibilityModule sex: FEMALE, minimumAge: 0 Years, maximumAge: 18 Years, stdAges: CHILD, stdAges: ADULT, contactsLocationsModule locations facility: Trinity College Institute of Neuroscience, Lloyd Building, D2, status: RECRUITING, city: Dublin, country: Ireland, contacts name: Daniela Tropea, role: CONTACT, email: daniela.tropea@tcd.ie, geoPoint lat: 53.33306, lon: -6.24889, locations facility: Ospedale Versilia Centro di Riferimento, status: RECRUITING, city: Lido Di Camaiore, state: Lucca, zip: 55049, country: Italy, contacts name: Ilaria Gemo, role: CONTACT, email: ilaria.gemo@uslnordovest.toscana.it, geoPoint lat: 43.90012, lon: 10.2269, locations facility: IRCCS Fondazione Stella Maris, status: RECRUITING, city: Calambrone, state: Pisa, zip: 56128, country: Italy, contacts name: Roberta Battini, role: CONTACT, phone: 050886282, email: rbattini@fsm.unipi.it, geoPoint lat: 43.58333, lon: 10.3, locations facility: AOU Meyer, status: RECRUITING, city: Firenze, zip: 50139, country: Italy, contacts name: Viola Doccini, role: CONTACT, email: viola.doccini@meyer.it, geoPoint lat: 43.77925, lon: 11.24626, hasResults: False