Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders. (PsyNIT)
Primary Purpose
Inherited Metabolic Disorder of Nervous System, Schizophrenia
Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Sulfitest
Sponsored by
About this trial
This is an interventional diagnostic trial for Inherited Metabolic Disorder of Nervous System focused on measuring NIT1, Sulfitest, Inherited Metabolic Disorder, Psychotic Disorders
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.
Sites / Locations
- CHU Grenoble AlpesRecruiting
Arms of the Study
Arm 1
Arm Type
Other
Arm Label
Patient cohort
Arm Description
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.
Outcomes
Primary Outcome Measures
Number of positive sulfitests (compared to the number of patients included).
Sulfitest is considered positive if clearly colored.
Secondary Outcome Measures
Sulfite concentration in urine (semi-quantitative scale).
Sulfite concentration is estimated by visual analysis of the urine dipstick test.
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.
Full Information
NCT ID
NCT05206292
First Posted
January 6, 2022
Last Updated
May 9, 2023
Sponsor
University Hospital, Grenoble
1. Study Identification
Unique Protocol Identification Number
NCT05206292
Brief Title
Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders.
Acronym
PsyNIT
Official Title
Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders.
Study Type
Interventional
2. Study Status
Record Verification Date
May 2023
Overall Recruitment Status
Recruiting
Study Start Date
January 12, 2023 (Actual)
Primary Completion Date
January 1, 2025 (Anticipated)
Study Completion Date
June 1, 2025 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Grenoble
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Inherited Metabolic Disorder of Nervous System, Schizophrenia
Keywords
NIT1, Sulfitest, Inherited Metabolic Disorder, Psychotic Disorders
7. Study Design
Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Model Description
Adult patients with psychotic disorder without known organic cause.
Masking
None (Open Label)
Allocation
N/A
Enrollment
600 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Patient cohort
Arm Type
Other
Arm Description
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.
Intervention Type
Diagnostic Test
Intervention Name(s)
Sulfitest
Intervention Description
Urine strip to detect the presence of sulfites in urine. Immediate result.
Primary Outcome Measure Information:
Title
Number of positive sulfitests (compared to the number of patients included).
Description
Sulfitest is considered positive if clearly colored.
Time Frame
15 minutes
Secondary Outcome Measure Information:
Title
Sulfite concentration in urine (semi-quantitative scale).
Description
Sulfite concentration is estimated by visual analysis of the urine dipstick test.
Time Frame
15 minutes
Title
Clinical characteristics of patients with a positive sulfitest.
Description
Collection of clinical characteristics of patients with a positive sulfitest, by questioning or by analysis of the medical record.
Time Frame
15 minutes
10. Eligibility
Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
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.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Gauthier Willaume
Phone
+33 4 76 76 57 92
Email
gwillaume@chu-grenoble.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Gérard Besson
Organizational Affiliation
University Hospital, Grenoble
Official's Role
Principal Investigator
Facility Information:
Facility Name
CHU Grenoble Alpes
City
Grenoble
ZIP/Postal Code
38043
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Gauthier WILLAUME
Phone
+33 (0)4 76 76 57 92
Email
gwillaume@chu-grenoble.fr
First Name & Middle Initial & Last Name & Degree
Gérard BESSON
12. IPD Sharing Statement
Plan to Share IPD
No
Citations:
PubMed Identifier
17199051
Citation
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.
Results Reference
result
PubMed Identifier
17694356
Citation
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.
Results Reference
result
PubMed Identifier
31705625
Citation
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.
Results Reference
result
PubMed Identifier
28373563
Citation
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.
Results Reference
result
PubMed Identifier
32802950
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.
Results Reference
result
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Estimating Prevalence of Inherited Disorders of Sulfur Amino Acids Metabolism in Patients With Psychotic Disorders.
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