Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| 2021-A01940-41 | Other Identifier | ID RCB |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Screening for sulfur amino acid metabolism pathologies using a sulfitest in adult patients with psychotic disorder.
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.
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patient cohort | Other | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Sulfitest | Diagnostic Test | Urine strip to detect the presence of sulfites in urine. Immediate result. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of positive sulfitests (compared to the number of patients included). | Sulfitest is considered positive if clearly colored. | 15 minutes |
| Measure | Description | Time Frame |
|---|---|---|
| Sulfite concentration in urine (semi-quantitative scale). | Sulfite concentration is estimated by visual analysis of the urine dipstick test. | 15 minutes |
| Clinical characteristics of patients with a positive sulfitest. |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Gauthier Willaume | Contact | +33 4 76 76 57 92 | gwillaume@chu-grenoble.fr |
| Name | Affiliation | Role |
|---|---|---|
| Gérard Besson | University Hospital, Grenoble | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Grenoble Alpes | Recruiting | Grenoble | 38043 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 17199051 | Result | 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. | |
| 17694356 |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D012559 | Schizophrenia |
| D011618 | Psychotic Disorders |
| ID | Term |
|---|---|
| D019967 | Schizophrenia Spectrum and Other Psychotic Disorders |
| D001523 | Mental Disorders |
Not provided
Not provided
Adult patients with psychotic disorder without known organic cause.
Not provided
Not provided
Not provided
Not provided
Collection of clinical characteristics of patients with a positive sulfitest, by questioning or by analysis of the medical record.
| 15 minutes |
| 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. |
| 31705625 | Result | 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. |
| 28373563 | Result | 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. |
| 32802950 | Result | 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. |