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NCT Number: NCT07380594

Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome

White Sutton syndrome is a rare developmental disorder identified following the description of de novo variations in the POGZ gene, responsible for neurocognitive disorders that may be associated with other signs including hypotonia, deafness, visual disorders, tendency to be overweight, gastrointestinal disorders, convulsions, sleep disorders with sleep apnoea and facial morphological peculiarities. A descriptive study focusing on the neuropsychological assessments of patients showed an absence of systematic intellectual disability and clinical heterogeneity. Psychiatrically, anxiety seems to predominate and manifest itself broadly in the form of generalised anxiety disorder, phobic disorder or obsessive-compulsive disorder. Some patients may also present with autism spectrum disorders, behavioural disorders and attention disorders with or without hyperactivity. Psychiatric symptoms appear to be present in many patients, but with varying frequency and heterogeneous manifestations. Psychiatric manifestations and symptoms can complicate the already complex and often multidisciplinary management of patients. It is therefore essential to define more precisely the psychological characteristics of patients and the psychiatric comorbidities that may be associated with this condition in order to adapt behavioural, environmental and therapeutic management strategies.Psychiatric symptoms appear to be present in many patients, but with varying frequency and heterogeneous manifestations. Psychiatric manifestations and symptoms can complicate the already complex and often multidisciplinary management of patients. It is therefore essential to define more precisely the psychological characteristics of patients and the psychiatric comorbidities that may be associated with this condition in order to adapt behavioural, environmental and therapeutic management strategies. This would make it possible to consider methods for early detection and faster management of psychiatric comorbidities.

Recruiting

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Key information

Age range

6 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Individuals with White Sutton syndrome (genetic mutation identified by genetic testing) adults and children, and French speakers
  • Patient or carer able to complete a questionnaire in French lasting 1 to 2 hours
  • Age > 6 years (lower age limit for the primary endpoint)
  • Consent of the patient (and their parents if the patient is a minor) and legal representative (for patients under guardianship or trusteeship) to participate in the study

Exclusion criteria

  • Absence of genetic confirmation of the diagnosis
  • Refusal by parents or legal representatives to participate or authorise the use of data for research purposes
  • Technical impossibility of conducting the interview by videoconference or telephone
  • Unfeasible protocol
  • patient interruption

Treatment and study plan

Interviews

Other

An inclusion interview and a second interview 3 to 6 months after the inclusion interview

questionnaires

Other

K-SADS-PL DSM5 et M.I.N.I 5.0.0 French version / DSM-IV

Primary outcomes

  1. Assessment of symptoms and psychiatric diagnoses through a medical interview.

    Time frame: 6 to 9 months

  2. Assessment of symptoms and psychiatric diagnoses through an MINI scales for adults.

    Time frame: 6 to 9 months

  3. Assessment of symptoms and psychiatric diagnoses through a K-SADS scales for children aged 6 to 18.

    Time frame: 6 to 9 months

Study contacts

Contact information is provided by the study sponsor or research team.

Raphaëlle MOTTOLESE

CONTACT

[email protected]

03 80 29 53 13 ext. +33

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Acronym: PSY-POGZ

Important dates

Study start
2026
Primary completion
2028
Study completion
2028
First posted
Feb 2, 2026
Registry last updated
Feb 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.