People With White Sutton SyndromePSY-POGZNCT07380594
Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome
An observational study of People With White Sutton Syndrome, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- People With White Sutton Syndrome
- What is being tested?
- Interviews and Questionnaires
- Type of treatment
- Injection or infusion
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2026to Jan 2028
- Phase
- Observational
- 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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: People with White Sutton syndrome
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Dijon Bourgogne
Dijon, 21000
Raphaëlle MOTTOLESE, 03 80 29 53 13 ext. +33, raphaelle.mottolese@chu-dijon.fr
About this study
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.
- Conditions
- People With White Sutton Syndrome
- Being tested
- Interviews, Questionnaires
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
InterviewsOther
An inclusion interview and a second interview 3 to 6 months after the inclusion interview
QuestionnairesOther
K-SADS-PL DSM5 et M.I.N.I 5.0.0 French version / DSM-IV
| Study group | Role | What they receive |
|---|---|---|
| People with White Sutton syndrome | Not described Receives: Other: Interviews; Other: Questionnaires |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of symptoms and psychiatric diagnoses through a medical interview.
Measured: 6 to 9 months
Assessment of symptoms and psychiatric diagnoses through an MINI scales for adults.
Measured: 6 to 9 months
Assessment of symptoms and psychiatric diagnoses through a K-SADS scales for children aged 6 to 18.
Measured: 6 to 9 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2026
- Study startJan 2026 (estimated)
- Primary completionJan 2028 (estimated)
- Study completionJan 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for People With White Sutton SyndromeStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe 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
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07380594
- Sponsor's protocol ID
- MOTTOLESE 2025
- Acronym
- PSY-POGZ
- Status last verified
- Jan 2026
- First submitted
- 16 Jan 2026
- Last updated
- 2 Feb 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Descriptive Study of Psychiatric Symptoms in White-Sutton Syndrome
- ClinicalTrials.gov ID
- NCT07380594
- Acronym / sponsor ID
- PSY-POGZ / MOTTOLESE 2025
- Conditions
- People With White Sutton Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- Jan 2026 (estimated)
- Primary completion
- Jan 2028 (estimated)
- Study completion
- Jan 2028 (estimated)
- First posted
- 2 Feb 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.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| People with White Sutton syndrome | – | Other: Interviews, Other: Questionnaires |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- People with White Sutton syndrome
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (5 listed)
- 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
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 |
|---|---|---|
| InterviewsAn inclusion interview and a second interview 3 to 6 months after the inclusion interview | Other | People with White Sutton syndrome |
| QuestionnairesK-SADS-PL DSM5 et M.I.N.I 5.0.0 French version / DSM-IV | Other | People with White Sutton syndrome |
Primary outcome
Assessment of symptoms and psychiatric diagnoses through a medical interview.
Time frame: 6 to 9 months
Assessment of symptoms and psychiatric diagnoses through an MINI scales for adults.
Time frame: 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
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 2 Feb 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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of People With White Sutton Syndrome, run by Centre Hospitalier Universitaire Dijon at 1 site 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 4 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 2 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 Raphaëlle MOTTOLESE (03 80 29 53 13 ext. +33, raphaelle.mottolese@chu-dijon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of symptoms and psychiatric diagnoses through a medical interview. (time frame: 6 to 9 months). The study lists 3 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 2 Feb 2026.