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
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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RECRUITING
NA
600 participants
INTERVENTIONAL
2023-01-12
2025-06-01
Brief Summary
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Detailed Description
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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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Study Design
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NA
SINGLE_GROUP
DIAGNOSTIC
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.
Sulfitest
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.
Eligibility Criteria
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Inclusion Criteria
* 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
18 Years
ALL
No
Sponsors
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University Hospital, Grenoble
OTHER
Responsible Party
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Principal Investigators
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Gérard Besson
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Grenoble
Locations
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CHU Grenoble Alpes
Grenoble, , France
Countries
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Central Contacts
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Facility Contacts
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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.
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.
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.
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.
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.
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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