Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome (PSY-POGZ)

January 23, 2026 updated by: Centre Hospitalier Universitaire Dijon
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

People with White Sutton syndrome

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
People with White Sutton syndrome
Other: Interviews
An inclusion interview and a second interview 3 to 6 months after the inclusion interview
Other: Questionnaires
K-SADS-PL DSM5 et M.I.N.I 5.0.0 French version / DSM-IV

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Assessment of symptoms and psychiatric diagnoses through a medical interview.
Time Frame: 6 to 9 months
6 to 9 months
Assessment of symptoms and psychiatric diagnoses through an MINI scales for adults.
Time Frame: 6 to 9 months
6 to 9 months
Assessment of symptoms and psychiatric diagnoses through a K-SADS scales for children aged 6 to 18.
Time Frame: 6 to 9 months
6 to 9 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire Dijon

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

January 1, 2026

Primary Completion (Estimated)

January 1, 2028

Study Completion (Estimated)

January 1, 2028

Study Registration Dates

First Submitted

January 16, 2026

First Submitted That Met QC Criteria

January 23, 2026

First Posted (Actual)

February 2, 2026

Study Record Updates

Last Update Posted (Actual)

February 2, 2026

Last Update Submitted That Met QC Criteria

January 23, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MOTTOLESE 2025

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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