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

NCT ID: NCT05206292

Last Updated: 2024-06-03

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

600 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-01-12

Study Completion Date

2025-06-01

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.

Conditions

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Inherited Metabolic Disorder of Nervous System Schizophrenia

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Adult patients with psychotic disorder without known organic cause.
Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Patient cohort

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.

Group Type OTHER

Sulfitest

Intervention Type DIAGNOSTIC_TEST

Urine strip to detect the presence of sulfites in urine. Immediate result.

Interventions

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Sulfitest

Urine strip to detect the presence of sulfites in urine. Immediate result.

Intervention Type DIAGNOSTIC_TEST

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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Grenoble

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Gérard Besson

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Grenoble

Locations

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CHU Grenoble Alpes

Grenoble, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Gauthier Willaume

Role: CONTACT

+33 4 76 76 57 92

Facility Contacts

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Gauthier WILLAUME

Role: primary

+33 (0)4 76 76 57 92

References

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Perala J, Suvisaari J, Saarni SI, Kuoppasalmi K, Isometsa E, Pirkola S, Partonen T, Tuulio-Henriksson A, Hintikka J, Kieseppa T, Harkanen T, Koskinen S, Lonnqvist J. Lifetime prevalence of psychotic and bipolar I disorders in a general population. Arch Gen Psychiatry. 2007 Jan;64(1):19-28. doi: 10.1001/archpsyc.64.1.19.

Reference Type RESULT
PMID: 17199051 (View on PubMed)

Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis. 2007 Oct;30(5):631-41. doi: 10.1007/s10545-007-0661-4. Epub 2007 Aug 10.

Reference Type RESULT
PMID: 17694356 (View on PubMed)

Rendu J, Van Noolen L, Garrel C, Brocard J, Marty I, Corne C, Faure J, Besson G. Familial deep cavitating state with a glutathione metabolism defect. Ann Clin Transl Neurol. 2019 Dec;6(12):2573-2578. doi: 10.1002/acn3.50933. Epub 2019 Nov 9.

Reference Type RESULT
PMID: 31705625 (View on PubMed)

Peracchi A, Veiga-da-Cunha M, Kuhara T, Ellens KW, Paczia N, Stroobant V, Seliga AK, Marlaire S, Jaisson S, Bommer GT, Sun J, Huebner K, Linster CL, Cooper AJL, Van Schaftingen E. Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3233-E3242. doi: 10.1073/pnas.1613736114. Epub 2017 Apr 3.

Reference Type RESULT
PMID: 28373563 (View on PubMed)

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.

Reference Type RESULT
PMID: 32802950 (View on PubMed)

Other Identifiers

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2021-A01940-41

Identifier Type: OTHER

Identifier Source: secondary_id

38RC21.0294

Identifier Type: -

Identifier Source: org_study_id

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