Clinical trial NCT05206292: Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders.
Official title: Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders.
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Inherited Metabolic Disorder of Nervous System
Schizophrenia
Keywords: NIT1
Sulfitest
Inherited Metabolic Disorder
Psychotic Disorders
Lead sponsor: University Hospital, Grenoble
Sponsor class: OTHER
First posted: 2022-01-25
Enrollment: 600
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Adult patients with psychotic disorder without known organic cause.
Primary purpose: DIAGNOSTIC

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Number of positive sulfitests (compared to the number of patients included).
timeFrame: 15 minutes
Secondary outcomes:
measure: Sulfite concentration in urine (semi-quantitative scale).
timeFrame: 15 minutes
measure: Clinical characteristics of patients with a positive sulfitest.
timeFrame: 15 minutes
Other outcomes:
Locations:
city: Grenoble
country: France
facility: CHU Grenoble Alpes
Study officials:
affiliation: University Hospital, Grenoble
name: Gérard Besson
role: PRINCIPAL_INVESTIGATOR
References:
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citation: Misko AL, Liang Y, Kohl JB, Eichler F. Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020 Jul 14;6(4):e486. doi: 10.1212/NXG.0000000000000486. eCollection 2020 Aug.