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

Not Applicable

Recruiting

• Conditions: Schizophrenia; Inherited Metabolic Disorder of Nervous System
• Interventions: Diagnostic Test: Sulfitest

• Registration Number: NCT05206292
• Lead Sponsor: University Hospital, Grenoble

Brief Summary

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

Detailed Description

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.

Study Timeline

• Study First Submitted: 2022-01-06
• Study First Submitted QC: 2022-01-24
• Study First Posted: 2022-01-25
• Study Start: 2023-01-12
• Status Verified: 2024-05
• Last Update Submitted: 2024-05-31
• Last Update Posted: 2024-06-03
• Primary Completion: 2025-01-01
• Study Completion: 2025-06-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 600

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Patient cohort	Sulfitest	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.

Primary Outcome Measures

Name	Time	Method
Number of positive sulfitests (compared to the number of patients included).	15 minutes	Sulfitest is considered positive if clearly colored.

Secondary Outcome Measures

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

Trial Locations

Locations (1)

CHU Grenoble Alpes; 🇫🇷 Grenoble, France