An interventional study of clinical assessment and Parental questionnaires in 7q11.23 Microduplication Syndrome (7DUP), Autism Spectrum Disorder (ASD) and Neurodevelopmental Disorders (NDD), sponsored by Hospices Civils de Lyon. Recruiting at 2 sites in France. Open to participants aged 5 Years to 50 Years. Per ClinicalTrials.gov, last updated 2026-08-03.
Sponsored by Hospices Civils de Lyon · Not applicable, Interventional, and Other
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 NDD and social deficits. Despite progress in characterizing the genetic underpinnings of 7DUP, there remains a critical gap in understanding the developmental trajectory of socialization impairments in affected individuals, especially during their transition through different developmental stages, from early childhood to adulthood.
Recent advancements in the study of neuronal models derived from induced pluripotent stem cells (iPSCs) and brain organoids have shed light on the molecular mechanisms driving 7DUP-related NDDs. Histone deacetylase inhibitors (HDAC inhibitors), which have been widely used in oncology, have shown promising preliminary results in reducing abnormal GTF2I expression in glutamatergic neurons differentiated from 7DUP patient-derived iPSCs. Preclinical studies in mouse models further demonstrated that these drugs can ameliorate socialization deficits, highlighting their therapeutic potential in addressing the core neurodevelopmental challenges in 7DUP.
However, despite these advancements, no longitudinal clinical studies have characterized the developmental trajectory of socialization impairments in 7DUP patients. Understanding this trajectory is critical, as it can inform the timing and potential impact of therapeutic interventions, such as HDAC inhibitors. Given the complexity and variability of the 7DUP phenotype, a comprehensive clinical characterization of socialization impairments across the lifespan is essential to improve diagnostic accuracy, optimize intervention strategies, and ultimately improve patient outcomes.
The aim of this research is to characterize the developmental trajectory of socialization impairments in patients with 7DUP, from early childhood through adulthood. By identifying patterns of socialization difficulties, this innovative study will allow to efficiently prepare future therapeutic trials, by specifying the phenotype of the patients, and by determining the most relevant outcome measures, taking into account, on one hand, their neurodevelopmental involvement and, on the other hand, the type of experimental design to be used in the context of rare diseases.
1,724 studies on the registry are indexed under Autism Spectrum Disorder; 500 are open to participants now.
This study's planned enrollment of 15 is below the median of 52 across 1,368 interventional studies indexed under Autism Spectrum Disorder.
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Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Regarding specifically the neuroimaging data (MRI):
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients aged 5 to 50 years with a confirmed diagnosis of 7q11.23 microduplication syndrome (7DUP).
Other: clinical assessment · Other: Parental questionnaires · Other: Cognitive assessment · Device: Reasoning assessment · Other: Motor assessment · Other: Social assessment · Other: Brain MRI (structural and functional)
Clinical examination including Medical history, developmental trajectory, epilepsy history, clinical examination, actimetry over 24hours, podometry, 6 minutes walk test at the inclusion visit by a neuropediatrist.
Parental questionnaires including Vineland Adaptive Behavior scale second edition (Vineland II) , SRS-2, CBI, Beach Center Family Quality Of Life , PPD-MRS, Dunn sensory profile, ABC, Nisonger Child Behavior Rating, PEDSQL, Pediatric Quality of Life Inventory , San Martin Scale completed at the inclusion visit.
Cognitive assessment including Leiter-3, Bayley-4 (if Leiter-3 not possible), CPM-BF, 4 sub-tests from the WPPSI-IV, 4 sub-tests from KITAP.PPVT 5, EVT 3, EXALANG 3-6 and automatic language analysis will be performed at the inclusion visit.
Simple reasoning tasks on tablets performed at the inclusion visit.
Purdue-Pegboard test , Kinematic task and Renzi scale will be performed at inclusion visit.
Two eye-tracking tasks, ADOS, theory of mind assessment will be performed at inclusion visit.
Optional brain MRI acquisition (structural and functional) will be performed at inclusion visit.
Developmental trajectory tracking through age of acquisition in months.
\- Age at head control acquisition in months,
Time frame: At inclusion visit
Developmental trajectory tracking
\- Age at sitting alone in months,
Time frame: At inclusion visit
Developmental trajectory tracking
\- Age at walking alone in months,
Time frame: At inclusion visit
Developmental trajectory tracking
\- Age at running in months,
Time frame: At inclusion visit
Developmental trajectory tracking
\- Age at climbing stairs alternately in months,
Time frame: At inclusion visit
Adaptive assessment of skills (communication, daily life, socialisation, and motor skills)
* based on interview with the parents of the patient * and with the VABS2 (Vineland Adaptive Behaviour Scale second edition)
Time frame: At inclusion visit
Description of the global social assessment from the ADOS scale score [0-28]
* Social assessment: score \[0-28\] from the ADOS scale (Autism Spectrum Disorder) * A score \>7 indicated characteristics of autism spectrum disorder.
Time frame: At inclusion visit
Description of the global autism spectrum disorder (ASD)
* through parental questionnaires * score (range 0-19) derived from the Pervasive Developmental Disorder in Mentally Retarded Persons Scale (PDD-MRS). * A score \> 10 is positive for an autism spectrum disorder.
Time frame: At inclusion visit
Full-Scale Intelligence Quotient (FSIQ)
The Full-Scale Intelligence Quotient (FSIQ) is a standardized measure of global cognitive functioning, with scores ranging from 40 to 160. It is assessed using age-appropriate Wechsler scales: Wechsler Preschool and Primary Scale of Intelligence Fourth Edition (WPPSI-IV) for children aged 5-6 years, Wechsler Intelligence Scale for Children Fifth Edition (WISC-V) for children older than 6 years, and Wechsler Adult Intelligence Scale Fourth Edition (WAIS-IV) for individuals older than 16 years. An IQ score below 70 is indicative of intellectual disability.
Time frame: At inclusion visit
Nonverbal Intelligence Quotient (NVIQ)
The Nonverbal Intelligence Quotient (NVIQ) is a standardized measure of nonverbal cognitive functioning, with scores ranging from 30 to 170. It is assessed using the Leiter International Performance Scale Third Edition (Leiter-3) when Wechsler scales cannot be administered. The assessment includes four cognitive subtests to derive the nonverbal IQ score and two additional subtests evaluating nonverbal memory. An IQ score below 70 is indicative of intellectual disability.
Time frame: At inclusion visit
Epilepsy Status
Epilepsy status is recorded as a dichotomous variable (Yes/No) based on information extracted from the participant's medical file at the inclusion visit. This outcome reflects the presence or absence of a documented diagnosis of epilepsy at the time of study enrollment.
Time frame: At inclusion visit
Atypical Sensory Profile Type
The type of atypical sensory profile (auditory, visual, tactile, and movement-related) is determined using the Dunn Sensory Profile. This assessment is based on parent-completed questionnaires evaluating patterns of hypo- and hypersensitivity across the specified sensory domains.
Time frame: At inclusion visit
24-Hour Activity and Sleep Duration (Minutes)
Total duration of physical activity (minutes) and total sleep duration (minutes) over a 24-hour period, measured using actimetry data collected at the inclusion visit. This outcome is derived from objective actigraphy recordings quantifying movement-based activity and sleep patterns across a continuous 24-hour monitoring period.
Time frame: At inclusion visit
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