Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders.

Study Overview
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Brief Summary
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Screening for sulfur amino acid metabolism pathologies using a sulfitest in adult patients with psychotic disorder.

Detailed Description
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Psychotic disorder is a public health problem, with a cumulative incidence in the general population estimated at 3%. Although in most cases the origin is purely psychiatric, psychotic disorder can also represent a mode of entry into many organic pathologies. Among these, hereditary metabolic diseases, although rare in the general population, hold a special place, especially in view of their potentially treatable character. However, the identification of this type of disease within the mass of patients with psychotic disorders can be an extremely complex task, and has been the subject of scientific interest for many years. Recently, at the Grenoble Alpes University Hospital, a new hereditary metabolic disease that causes psychotic disorders has been discovered. This disease was identified in a family of patients, most of whom had psychotic disorders, and all of whom had deep cystic leukoencephalopathy on MRI and a positive sulfitest. The discovery of this new hereditary metabolic disease raises the question of its prevalence in patients with psychotic disorders, and more generally of the prevalence of diseases of sulfur amino acid metabolism. PsyNIT study therefore aims, using the sulfitest, to detect hereditary diseases of sulfur amino acid metabolism in a sample of patients with psychotic disorders without known organic etiology. The discovery of other patients would raise the question of screening more widely for this type of pathology, and would modify the management of the patients thus screened in terms of follow-up and possibly treatment.

Official Title
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Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders.

Conditions
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Inherited Metabolic Disorder of Nervous System, Schizophrenia

Intervention / Treatment
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* Diagnostic Test: Sulfitest


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Male or female 18 years of age and older, Followed for a psychotic disorder, With no known organic etiology for the psychotic disorder, Not having formulated its opposition to participation in the study (or his/her tutor/curator), Affiliated with the social security system. Exclusion Criteria: Patients protected by law (minors, pregnant or breastfeeding women, deprived of liberty or hospitalized under constraint, under administrative or judicial supervision) except patients under tutorship or curatorship.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Interventional Model Description: Adult patients with psychotic disorder without known organic cause.
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Patient cohort<br>There is only one patient arm. It corresponds to the cohort of included patients, all of whom had psychotic disorders with no known organic etiology. | Diagnostic Test: Sulfitest<br>* Urine strip to detect the presence of sulfites in urine. Immediate result.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of positive sulfitests (compared to the number of patients included). | Sulfitest is considered positive if clearly colored. | 15 minutes | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sulfite concentration in urine (semi-quantitative scale). | Sulfite concentration is estimated by visual analysis of the urine dipstick test. | 15 minutes | 
| Clinical characteristics of patients with a positive sulfitest. | Collection of clinical characteristics of patients with a positive sulfitest, by questioning or by analysis of the medical record. | 15 minutes | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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NIT1, Sulfitest, Inherited Metabolic Disorder, Psychotic Disorders