Characterizing psychiatric features in individuals with FOXP1 syndrome
Psychiatric Phenotype Characterization of Individuals With FOXP1 Syndrome
This study is trying to learn more about the mental health challenges faced by people with FOXP1 syndrome by talking to them and their families about their symptoms and behaviors.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT06211673 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize the psychiatric phenotype of individuals diagnosed with FOXP1 syndrome, a rare genetic disorder. It involves assessing patients through semi-structured interviews and heteroquestionnaires to gather detailed information about their psychiatric symptoms, including developmental delays, behavioral issues, and the prevalence of disorders such as ADHD and autism. The study will focus on patients at the Necker-Enfants Malades Hospital in Paris, where a significant number of cases have been reported. The goal is to better understand the psychiatric manifestations and challenges faced by these patients.
Who should consider this trial
Good fit: Ideal candidates include minors or adults with a confirmed diagnosis of FOXP1 syndrome who are seeking consultation at the Necker-Enfants Malades Hospital.
Not a fit: Patients whose legal guardians are non-French speaking or illiterate may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of psychiatric symptoms in patients with FOXP1 syndrome.
How similar studies have performed: While there have been studies on FOXP1 syndrome, this specific characterization of psychiatric features is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Minor or adult patient, without age limit, presenting with FOXP1 syndrome due to an identified genetic anomaly affecting the FOXP1 gene; * Patient who has sought consultationat Necker-Enfants Malades hospital; * Legal guardians of the minor patient or legal representative of the adult patient, and the minor or adult patient capable of providing consent to participate in the study, informed about the study and not objecting to participation in the study. Exclusion Criteria: * Non French-speaking legal guardians or legal representatives of the patient; * Illiterate legal guardians or legal representatives of the patient.
Where this trial is running
Paris
- Hôpital Necker-Enfants Malades — Paris, France (Recruiting)
Study contacts
- Principal investigator: Maryse Pagnier, MD — Assistance Publique - Hôpitaux de Paris
- Study coordinator: Maryse Pagnier, MD
- Email: maryse.pagnier@aphp.fr
- Phone: 1 44 49 45 61
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.