Understanding 7q11.23 Microduplication Syndrome (7DUP) and Related Neurodevelopmental Conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

Participants with a confirmed 7q11.23 microduplication will undergo clinical assessments, parental questionnaires, cognitive, reasoning, and motor testing to characterize the natural history of 7DUP and related neurodevelopmental issues. Each participant will be paired with sex- and age-matched controls drawn from the CREAT_criteria study data. The study will be conducted at multiple Lyon centers under a centralized lead sponsor to standardize data collection. Enrollment requires French-speaking mothers/guardians and health-insurance affiliation, with informed consent obtained from participants or guardians. The goal is to better understand social and cognitive profiles and identify patterns that could inform future interventions.

Why it matters

Who can join: the full rules

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.

Where it's running

• Developmental Anomalies Reference Center, Genetics Department Woman Mother and Child Hospital, University Hospital of Lyon, Hospices Civils de Lyon
  Bron, France 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, France Recruiting

Study contacts

• Study coordinator: Dr Massimiliano ROSSI
• Email: massimiliano.rossi01@chu-lyon.fr
• Phone: +33 (0)4.27.85.55.72

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Two-week intensive brain-focused therapy program for children with neurodevelopmental and chromosomal conditions

  This program will try a two-week, individualized multimodal neurorehabilitation approach for children about 4–12 years old with neurodevelopmental or chromosomal conditions to see if it improves attention, motor skills, communication, and daily functioning.

  Recruiting Healing Hope International · The Woodlands, Texas · NCT07493096

• Clown therapy to help kids with autism sit for dental visits

  This study tests whether clown therapy can help children with autism sit through a dental examination more easily than conventional familiarization methods.

  Recruiting University of Milan · Milan, Milan · NCT07906288

• French Minds: a French, Multimodal Cohort Study of Severe Psychiatric Disorders and Healthy Controls

  This study tests whether people with mood, psychotic, or autism disorders can be grouped into more similar subtypes based on social withdrawal and anhedonia, across ages 15 to 60.

  Recruiting at 10 sites Fondation FondaMental · Besançon and 16 other locations · NCT07881016

• Cardiorespiratory and muscular fitness in children with obesity and autism

  This study tests whether cardiorespiratory fitness and handgrip strength differ between children with obesity who have autism and those who do not, and how these fitness measures relate to body size, composition, and cardiometabolic health.

  Recruiting University of Virginia · Charlottesville, Virginia · NCT07804680

• Transitional Intervention for Hyperacusis in Autism

  Aiming to see if a transitional sound-therapy approach can help adults with autism tolerate everyday sounds better and reduce loudness-related distress.

  Recruiting University of Central Florida · Orlando, Florida and 1 other locations · NCT07798297

• Museum visits to support social and emotional well‑being in autistic adults

  This study tests whether visiting the National Taiwan Museum can help improve social participation and well-being for autistic adults aged 18–50.

  Recruiting National Taiwan University Hospital · Taipei · NCT07768332

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.