GeneticPSYGENNCT07686653
A Study of the Value of Trio Genome Sequencing in the Etiological Evaluation of Early-Onset and/or Atypical Psychiatric Disorders Without Intellectual Disability or Congenital Anomalies
An observational study of Genetic and Diagnostic Strategies, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
According to the World Health Organization, one in eight people worldwide has a mental disorder, defined as a significant impairment in thinking, emotional regulation, or behavior. These disorders are classified according to the DSM-5. Read more about this study
- Who is it for?
- Ages 3 to 50 years
- Conditions the study is for
- Genetic, Diagnostic Strategies
- What is being tested?
- Blood sample
- How many people
- 255 participants
- Where
- 1 siteFrance
- Study dates
- 16 Sep 2026to May 2029
- Phase
- Observational
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 3 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The index case and his two parents
Who may be able to join
- Index case with one or more psychiatric disorders confirmed by a psychiatrist and/or child psychiatrist, whose evaluations may be supplemented as needed as part of their care, and who meets at least ONE of the following criteria for atypicality:
- Early age of onset
- Unusual course of the disorder (polymorphic/fluctuating)
- Treatment resistance
- Disorder classified as "unspecified" by the DSM-5 with significant functional impact
- Index case aged 3 to 50 years, inclusive
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- Consent signed by the biological parents and by the "index case, if of legal age"
- Index case and their parents enrolled in or eligible for a social security program
- Sample collection possible from the index case and their two known biological parents
Who cannot join
- Genetic testing previously performed (CGH array, targeted gene testing, gene panel, etc.)
- Parent(s) and/or the index case subject to a court-ordered protective measure
- The index case and his or her parents have a condition that, in the investigator's opinion, would contraindicate the subject's participation in the study
- Presence of an intellectual developmental disorder confirmed by a neuropsychological test or strongly suspected clinically in the index case and/or their parents
- Index case with a clear syndromic diagnosis
- Index case with a psychiatric disorder already covered by a pre-indication under PFMG2025.
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
Caroline RACINE, 03.80.29.53.13 ext. +33, caroline.racine@chu-dijon.fr
About this study
According to the World Health Organization, one in eight people worldwide has a mental disorder, defined as a significant impairment in thinking, emotional regulation, or behavior. These disorders are classified according to the DSM-5. These psychiatric disorders may be atypical in terms of their age of onset, course of the illness, unusual response to treatment, or classification (significant impact but classified as a "disorder not otherwise specified" by the DSM-5). These disorders can occur sporadically or run in families.
In France, there are no genetic testing recommendations for these patients. A CGH-array analysis may be ordered as part of patient care, as may testing for Fragile X syndrome, depending on the clinical context.
Read more
The main hypothesis is that atypical psychiatric disorders result from multifactorial inheritance, involving a combination of common genetic variations and environmental factors. Pangenomic association studies and twin studies have already demonstrated heritability in these psychiatric disorders. It has now been shown that some neurodevelopmental disorders (NDDs) and psychiatric disorders-such as autism spectrum disorders or schizophrenia, for which similar hypotheses were proposed in the past-may result from monogenic inheritance. Furthermore, preliminary indications now allow for the prescription of genome sequencing on the platforms of the France Genomic Medicine Plan 2025.
To date, no study has evaluated the role of high-throughput sequencing in an etiological approach to atypical, non-syndromic psychiatric disorders. Through this study, we aim to assess whether genome sequencing (GS) could be relevant for atypical, non-syndromic psychiatric disorders, which would be the case if it leads to an etiological diagnosis in at least 12% of cases.
The establishment of the GénoPsy network (Centers of Excellence for Behavioral Disorders in Developmental Disorders) creates an environment that is highly conducive to the development of this project.
- Conditions
- Genetic, Diagnostic Strategies
- Being tested
- Blood sample
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
Collection of an EDTA blood sample from the index case and his or her two biological parents
| Study group | Role | What they receive |
|---|---|---|
| The index case and his two parents | Index cases with one or more psychiatric disorders Receives: Biological: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of at least one likely pathogenic or pathogenic variant (ACMG classification class 4/5) responsible for a condition that explains the patient(s psychiatric symptoms.
Measured: 8 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jul 2026
- Study start16 Sep 2026
- Primary completionMay 2029 (estimated)
- Study completionMay 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GeneticStudies of the same condition, open and under way.
- 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
- 255 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
- NCT07686653
- Sponsor's protocol ID
- RACINE PHRCI 2023
- Acronym
- PSYGEN
- Status last verified
- Sep 2026
- First submitted
- 30 Jun 2026
- Last updated
- 22 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No