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

Schizophrenia Clinical Trial

— PsyNIT  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05206292
• Other study ID #: 38RC21.0294
• Secondary ID: 2021-A01940-41
• Status: Recruiting
• Phase: N/A
• Start date: January 12, 2023
• Est. completion date: June 1, 2025

Study information

• Verified date: May 2024
• Source: University Hospital, Grenoble
• Contact: Gauthier Willaume
• Phone: +33 4 76 76 57 92
• Email: gwillaume[@]chu-grenoble.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 600
• Est. completion date: June 1, 2025
• Est. primary completion date: January 1, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Mental Disorders
• Metabolic Diseases
• Nervous System Diseases
• Psychotic Disorders
• Schizophrenia

Intervention

Diagnostic Test:
• Sulfitest
Urine strip to detect the presence of sulfites in urine. Immediate result.

Locations

Country	Name	City	State
France	CHU Grenoble Alpes	Grenoble

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Grenoble

Country where clinical trial is conducted

France, 

References & Publications (5)

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. — View 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. — View 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 Ge — View 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. — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of positive sulfitests (compared to the number of patients included).	Sulfitest is considered positive if clearly colored.	15 minutes
Secondary	Sulfite concentration in urine (semi-quantitative scale).	Sulfite concentration is estimated by visual analysis of the urine dipstick test.	15 minutes
Secondary	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.	15 minutes