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Characterization of the Natural History of Microduplication Syndrome 7q11.23

RecruitingNAAges 5 Years - 50 YearsAllHospices Civils de Lyon
NCT07469566 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

7q11.23 duplication syndrome (7q duplication syndrome/7DUP) is caused by a microduplication of the 7q11.23 chromosomal region, encompassing 26-28 genes, including the GTF2I gene. This syndrome, often considered as a "mirror" phenotype of Williams-Beuren syndrome (WBS), is characterized by a wide range of neurodevelopmental impairments, including a neurodevelopmental disorder (NDD), autism spectrum disorders (ASD), selective mutism, mild dysmorphic features, and aortic dilation. Notably, one of the core clinical features of 7DUP is socialization impairment, which varies in severity across individuals. The GTF2I gene, identified as critical in the pathogenesis of both WBS and 7DUP, exhibits opposite expression patterns in the two syndromes, with reduced expression in WBS and overexpression in 7DUP. The gene's dysregulation in 7DUP plays a pivotal role in the pathogenesis of the associated

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📋 Eligibility rules (as published)
Inclusion Criteria: * Diagnosis of 7q11.23 microduplication confirmed by Chromosomal Microarray Analysis or qPCR. * Aged \> 5 to \< 50 years * Whose maternal language is French * Having signed the informed consent and/or for whom parents/legal guardian have signed the informed consent. * Affiliated to national Health Insurance system (sécurité sociale) or parents/legal guardian affiliated to national health insurance system Each 7DUP patient will be matched to a sex- and chronological age-matched control. Data from controls will come from the CREAT\_criteria study (NCT 06018519). Each 7DUP patient will be matched to a sex- and mental age-matched control. Data from controls will come from the CREAT\_criteria study (NCT 06018519). Exclusion Criteria: * Refusal of the subject and/or the subject's parents/legal guardian to sign the informed consent * Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected during the neuropsychological assessment. Regarding specifically the neuroimaging data (MRI): * Having a contraindication to the MRI examination (people using a pacemaker or an insulin pump, people wearing a metal prosthesis or an intracerebral clip, and claustrophobic subjects). * Refusal of the subject and/or the subject's parents/legal guardian to be informed of possible abnormalities detected by MRI.
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What it tests

  • clinical assessment
  • Parental questionnaires
  • Cognitive assessment
  • Reasoning assessment
  • Motor assessment
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Where

2 sites
Developmental Anomalies Reference Center, Genetics Department Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon
Bron, France
Reference Center of Rare Disease with Intellectual Disability- in Lyon, Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon
Bron, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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