[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rare-genetic-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rare-genetic-disease":30},{"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":51,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":16,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":22,"phases":57,"briefSummary":58,"conditions":59,"keywords":60,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":44},"100598716","transcriptomic-analysis-of-fibroblasts-and-blood-in-patients-with-rare-diseases-100598716","NCT07075107","Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases","Transcriptomic Analysis (RNAseq) of Blood and Fibroblasts to Establish a Diagnosis in Patients With Rare Diseases","ARNseqFibroSan","Inclusion Criteria:\n\n* Male or female, aged 0-99 years\n* Patient with neonatal intellectual disability and\u002For hypotonia followed at one of three inclusion centers\n* Patient or parent has been informed about the study and has signed an informed consent form\n* Genetic analysis by high-throughput DNA sequencing (gene panel, exome, genome) did not identify any abnormality explaining the patient's phenotype.\n* If the patient's phenotype is suggestive of Prader-Willi syndrome or Angelman syndrome: a methylation anomaly test on chromosome 15 was negative.\n* If the patient's phenotype is suggestive of fragile X syndrome: a repeat expansion analysis of the FMR1 gene was negative.\n* If the patient's phenotype is suggestive of myotonic dystrophy type I, DM1: a repeat expansion analysis of the DMPK gene was negative.\n* Patient entitled to or beneficiary of a social security scheme\n\nExclusion Criteria:\n\n* Patient deprived of liberty\n* Pregnant or breast-feeding woman,\n* The person required to sign the consent form does not understand French\n* Person under guardianship and\u002For curatorship","0 Years","99 Years",{"count":56,"type":21},62,[24],"This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and\u002For neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients.\n\nFinally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.",[30],[61,62,63,64,65,66,67,68,69],"genetic analysis by high-throughput DNA sequencing","ARNseq","transcriptomic data","interpretation of sequence variants","Genomic Testing","RNA sequencing data","transcriptome analysis in rare disease","Rare diseases","Intellectual disability","2026-05-04",{"date":72,"type":36},"2026-05-08",{"date":74,"type":36},"2026-03-09",{"date":76,"type":21},"2029-04-30",{"name":78,"class":43},"Assistance Publique Hopitaux De Marseille"]