Not Yet RecruitingNot Applicable

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

France255 participantsStarted 2026-09

Plain-language 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. 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. 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.

Who can participate

Age range

3 Years – 50 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 * 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 Exclusion Criteria: * 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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

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.

Timeframe: 8 months

Trial details

NCT IDNCT07686653

SponsorCentre Hospitalier Universitaire Dijon

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2029-05

Contact for this trial

Caroline RACINE

03.80.29.53.13 caroline.racine@chu-dijon.fr

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