[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rare-genetic-disorders\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rare-genetic-disorders":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,45],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100595948","using-a-speech-generating-device-to-support-communication-in-rare-genetic-conditions-100595948",false,"NCT07039084","Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions","A Randomized Cross-over Trial Examining the Efficacy of Implementing a Speech-generating Device for Rare Genetic Conditions","Inclusion Criteria:\n\n* Is between the ages of 3 and 12 years, inclusive, at the time of enrolment\n* Has a diagnosis of a rare genetic disorder\n* Passes a visual-motor screening test, therefore being able to tap on an iPad spontaneously or by imitation and has adequate hearing\n* Considered \"minimally verbal\" with less than 50 spontaneous words (or gestalts) at baseline assessments, confirmed with the LVIS.\n* Is not currently using a speech-generating device with proficiency (i.e. using the device as a main mode of communication on a daily basis).\n* Is English-speaking or consents to therapy being conducted in English (parents will need to be able to complete the parent-reported measures in English)\n\nExclusion Criteria:\n\n* Has an additional or dual genetic variation (as this is likely to cause multiple complications and increase variability),\n* Is extremely ill or has progressed into a later stage of their disease (i.e. child has clinically significant loss of vision, hearing, fine motor skills, or is unable to adequately attend sessions due to illness),\n* This is to ensure treatment is beneficial, reduce harm and reduce attrition rates.\n* Lives outside of the state of Victoria (making it difficult for in-person appointments)\n* Inability or unwillingness of participant or legally acceptable representative to give written informed consent.","ALL","3 Years","12 Years",{"count":20,"type":21},38,"ESTIMATED","INTERVENTIONAL",[24],"NA","Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech. The aim of this clinical trial is to examine how well a speech-generating device supports the communication skills of participants with a rare genetic condition. The speech-generating device is a communication program loaded onto an iPad.\n\nThis is a crossover trial, meaning that each participant will receive both the treatment (device) and a control (usual care; no device) phase. The order in which each participant receives the device versus the usual care (no device) will depend on which group the participant is assigned to. The changes in communication in each phase will then be compared.\n\nDuring the trial, participants can expect to complete a series of assessments and attend a total of 2 x 1-hour therapy session per week for 6 weeks.",[27,28,29,30,31],"Genetic Disease","Nonverbal Communication","Augmentative and Alternative Communication","Rare Genetic Disease","Rare Genetic Disorders","RECRUITING","2026-05-21",{"date":35,"type":36},"2026-05-26","ACTUAL",{"date":38,"type":36},"2025-11-03",{"date":40,"type":21},"2027-05",{"name":42,"class":43},"Murdoch Childrens Research Institute","OTHER",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":52,"sex":16,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":58,"conditions":59,"keywords":62,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":66,"lastUpdatePostDateStruct":67,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":44},"100619769","the-relationship-between-functional-independence-and-family-well-being-in-children-with-rare-genetic-disorders-100619769","NCT07348926","The Relationship Between Functional Independence and Family Well-being in Children With Rare Genetic Disorders","Examination of Families' Psychological Status and Quality of Life According to the Functional Independence Status of Children With Rare Genetic Diseases in Early Childhood","Inclusion Criteria:\n\n* Caregivers of children aged 0-4 years diagnosed with a rare genetic disorder.\n* The child must have been receiving physiotherapy for at least 6 months.\n* Caregivers who voluntarily agree to participate and provide informed consent.\n* Caregivers who are able to read and understand Turkish to complete the questionnaires.\n\nExclusion Criteria:\n\n* Caregivers who have cognitive or language limitations that prevent them from completing the questionnaires.\n* Caregivers who decline participation or submit incomplete questionnaire forms.\n* Children or caregivers with an additional medical or neurological condition that prevents participation in the study.",true,"18 Years","65 Years",{"count":56,"type":21},45,"OBSERVATIONAL","This study aims to examine the psychological status and quality of life of families with children who have rare genetic disorders. The focus of the study is to understand how the child's level of functional independence relates to the well-being of the family. Functional independence will be assessed using standardized tools, and parental psychological status and quality of life will be evaluated with validated questionnaires.\n\nThe information gathered from this study may help improve the understanding of how rare genetic disorders affect family dynamics and daily functioning. The results may guide health care professionals in planning family-centered physiotherapy, psychological support, and care programs.",[31,60,61],"Quality of Life","Functional Impairment",[31,63,64,60,65],"physical therapy","Depression","Family","2026-01-10",{"date":68,"type":36},"2026-01-16",{"date":70,"type":36},"2025-10-25",{"date":72,"type":21},"2026-03-15",{"name":74,"class":43},"Bahçeşehir University"]