7q11.23 Microduplication Syndrome (7DUP)HINADU7NCT07469566
Characterization of the Natural History of Microduplication Syndrome 7q11.23
A study testing clinical assessment, Parental questionnaires and Cognitive assessment in people with 7q11.23 Microduplication Syndrome (7DUP) and Autism Spectrum Disorder (ASD), run by Hospices Civils de Lyon at 2 sites in France.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 5 to 50 years
- Conditions the study is for
- 7q11.23 Microduplication Syndrome (7DUP), Autism Spectrum Disorder (ASD), Neurodevelopmental Disorders (NDD)
- What is being tested?
- clinical assessment, Parental questionnaires and Cognitive assessment
- Type of treatment
- Pill or oral medicine, Injection or infusion, Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 15 participants
- Where
- 2 sitesFrance
- Study dates
- 15 Jul 2026to 1 Jan 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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).
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
Developmental Anomalies Reference Center, Genetics Department Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon
Bron, 69677
Dr Massimiliano ROSSI
- Recruiting
Reference Center of Rare Disease with Intellectual Disability- in Lyon, Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon
Bron, 69677
Dr Aurore CURIE
About this study
Official title: Characterization of the Natural History of Microduplication Syndrome
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.
Read more
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.
- Conditions
- 7q11.23 Microduplication Syndrome (7DUP), Autism Spectrum Disorder (ASD), Neurodevelopmental Disorders (NDD)
- Being tested
- clinical assessment, Parental questionnaires, Cognitive assessment, Reasoning assessment, Motor assessment
- Keywords
- 7q11.23 microduplication, 7DUP syndrome, neurodevelopmental disorders, autism spectrum disorder, ASD
- Medical subject headings
- Williams-Beuren Region Duplication Syndrome, Autism Spectrum Disorder, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
clinical assessmentOther
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 questionnairesOther
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 assessmentOther
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.
Reasoning assessmentDevice
Simple reasoning tasks on tablets performed at the inclusion visit.
Motor assessmentOther
Purdue-Pegboard test , Kinematic task and Renzi scale will be performed at inclusion visit.
Social assessmentOther
Two eye-tracking tasks, ADOS, theory of mind assessment will be performed at inclusion visit.
Brain MRI (structural and functional)Other
Optional brain MRI acquisition (structural and functional) will be performed at inclusion visit.
| Study group | Role | What they receive |
|---|---|---|
| 7q11.23 Microduplication Syndrome Patients (7DUP) | Experimental | Patients aged 5 to 50 years with a confirmed diagnosis of 7q11.23 microduplication syndrome (7DUP). Receives: Other: clinical assessment; Other: Parental questionnaires; Other: Cognitive assessment; Device: Reasoning assessment; Other: Motor assessment; Other: Social assessment; Other: Brain MRI (structural and functional) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Developmental trajectory tracking through age of acquisition in months.
- Age at head control acquisition in months,
Measured: At inclusion visit
Developmental trajectory tracking
- Age at sitting alone in months,
Measured: At inclusion visit
Developmental trajectory tracking
- Age at walking alone in months,
Measured: At inclusion visit
Developmental trajectory tracking
- Age at running in months,
Measured: At inclusion visit
Developmental trajectory tracking
- Age at climbing stairs alternately in months,
Measured: 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)
Measured: 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.
Measured: 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.
Measured: At inclusion visit
Secondary outcomes (5)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: At inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Mar 2026
- Study start15 Jul 2026
- Primary completion1 Jan 2028 (estimated)
- Study completion1 Jan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for 7q11.23 Microduplication Syndrome (7DUP)Studies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Only one prospective group included in this protocol. The control data come from CREAT\_criteria study (NCT06018519)
- Masking
- None (open label)
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07469566
- Sponsor's protocol ID
- 69HC24_0991
- Other IDs
- 2025-A01944-45
- Acronym
- HINADU7
- Status last verified
- Jul 2026
- First submitted
- 5 Dec 2025
- Last updated
- 3 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Natural History of Microduplication Syndrome
- ClinicalTrials.gov ID
- NCT07469566
- Acronym / sponsor ID
- HINADU7 / 69HC24_0991
- Conditions
- 7q11.23 Microduplication Syndrome (7DUP), Autism Spectrum Disorder (ASD), Neurodevelopmental Disorders (NDD)
- Keywords
- 7q11.23 microduplication, 7DUP syndrome, neurodevelopmental disorders, autism spectrum disorder, ASD
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 15 Jul 2026 (actual)
- Primary completion
- 1 Jan 2028 (estimated)
- Study completion
- 1 Jan 2028 (estimated)
- First posted
- 13 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Only one prospective group included in this protocol. The control data come from CREAT_criteria study (NCT06018519)
| Arm | Type | Receives |
|---|---|---|
| 7q11.23 Microduplication Syndrome Patients (7DUP) | Experimental | Other: clinical assessment, Other: Parental questionnaires, Other: Cognitive assessment, Device: Reasoning assessment, Other: Motor assessment, Other: Social assessment, Other: Brain MRI (structural and functional)Patients aged 5 to 50 years with a confirmed diagnosis of 7q11.23 microduplication syndrome (7DUP). |
Who may qualify
- Ages
- 5 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- 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).
Key exclusion criteria (5 listed)
- 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.
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| clinical assessmentClinical 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. | Other | 7q11.23 Microduplication Syndrome Patients (7DUP) |
| Parental questionnairesParental 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. | Other | 7q11.23 Microduplication Syndrome Patients (7DUP) |
| Cognitive assessmentCognitive 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. | Other | 7q11.23 Microduplication Syndrome Patients (7DUP) |
| Reasoning assessmentSimple reasoning tasks on tablets performed at the inclusion visit. | Device | 7q11.23 Microduplication Syndrome Patients (7DUP) |
| Motor assessmentPurdue-Pegboard test , Kinematic task and Renzi scale will be performed at inclusion visit. | Other | 7q11.23 Microduplication Syndrome Patients (7DUP) |
| Social assessmentTwo eye-tracking tasks, ADOS, theory of mind assessment will be performed at inclusion visit. | Other | 7q11.23 Microduplication Syndrome Patients (7DUP) |
| Brain MRI (structural and functional)Optional brain MRI acquisition (structural and functional) will be performed at inclusion visit. | Other | 7q11.23 Microduplication Syndrome Patients (7DUP) |
Primary outcome
Developmental trajectory tracking through age of acquisition in months.
Time frame: At inclusion visit
- Age at head control acquisition in months,
Developmental trajectory tracking
Time frame: At inclusion visit
- Age at sitting alone in months,
Developmental trajectory tracking
Time frame: At inclusion visit
- Age at walking alone in months,
Developmental trajectory tracking
Time frame: At inclusion visit
- Age at running in months,
Developmental trajectory tracking
Time frame: At inclusion visit
- Age at climbing stairs alternately in months,
Adaptive assessment of skills (communication, daily life, socialisation, and motor skills)
Time frame: At inclusion visit
* based on interview with the parents of the patient * and with the VABS2 (Vineland Adaptive Behaviour Scale second edition)
Description of the global social assessment from the ADOS scale score [0-28]
Time frame: At inclusion visit
* Social assessment: score [0-28] from the ADOS scale (Autism Spectrum Disorder) * A score >7 indicated characteristics of autism spectrum disorder.
Description of the global autism spectrum disorder (ASD)
Time frame: At inclusion visit
* 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.
5 secondary outcomes
Full-Scale Intelligence Quotient (FSIQ)
Time frame: At inclusion visit
Nonverbal Intelligence Quotient (NVIQ)
Time frame: At inclusion visit
Epilepsy Status
Time frame: At inclusion visit
Atypical Sensory Profile Type
Time frame: At inclusion visit
24-Hour Activity and Sleep Duration (Minutes)
Time frame: At inclusion visit
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Aug 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing clinical assessment, Parental questionnaires and Cognitive assessment in people with 7q11.23 Microduplication Syndrome (7DUP) and Autism Spectrum Disorder (ASD), run by Hospices Civils de Lyon at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dr Massimiliano ROSSI (+33 (0)4.27.85.55.72, massimiliano.rossi01@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Developmental trajectory tracking through age of acquisition in months. (time frame: At inclusion visit). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Aug 2026.