Clinical Study A. Retrospective Neuropathological Study of Synapse dysfunction.
This is a cross-sectional study of patients retrospectively collected from existing postmortem collections and from existing collections of iPSC-derived neurons. Postmortem tissue and iPSC-derived neurons from age and sex-matched unaffected volunteers without a MD or ND diagnosis are used as controls.
Eligibility
Sex
ALL
Min age
40 Years
Max age
—
Healthy volunteers
Accepted
Inclusion criteria for psychiatric disorders:
* Age group: Midlife brain donors (age-at-death\>40).
* Sex distribution: % Female in schizophrenia (23%), major depressive disorder and controls (40%), bipolar disorder and controls (55%). These percentages match those typically found in these disorders.
* Antemortem diagnosis of schizophrenia (paranoid-subtype diagnoses only to minimise the impact of potential confounding factors on the results and ensure homogeneity across schizophrenia subjects), major depression or bipolar disorder. Diagnoses are confirrmed antemortem by a psychiatrist using Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) criteria, as recorded in the deceased individuals' medical records.
Exclusion criteria for psychiatric disorders:
For schizophrenia, cases displaying additional neurological or psychiatric conditions, such as histories of substance use disorder will be excluded. Postmortem delay \>24h (to minimise perimortem confounding variables potentially affecting tissue quality.
Inclusion criteria for Neurodegenerative diseases:
* Age group: Latelife brain donors (age-at-death\>50).
* Sex distribution: Alzheimer's disease (60%), frontotemporal dementia (65%). These percentages match those typically found in these diseases.
* Neuropathological confirmation of Alzheimer's disease or frontotemporal lobar degeneration (C9orf72 repeat expansion carrier)Alzheimer's disease
Exclusion criteria for Neurodegenerative diseases:
Postmortem delay \>24h (to minimise perimortem confounding variables potentially affecting tissue quality.
Primary outcome measure(s)
Synaptic gene dysregulation in schizophrenia and frontotemporal dementia — January 2025 to December 2029 A list of genes that are differentially expressed in schizophrenia and frontotemporal dementia compared to controls identified by RNA sequencing a) synaptic fractions isolated from postmortem tissue from the prefrontal cortex of autopsy cases with a clinical diagnosis of schizophrenia or confirmation of frontotemporal lobar degeneration and b) established iPSC clones from patients with a clinical diagnosis of schizophrenia or behavioural variant frontotemporal dementia.
Molecular pathways related to synapse dysfunction in major depressive disorder, bipolar disorder and schizophrenia — January 2025 to December 2029 A list of biological processes that are enriched for proteins that are differentially expressed in major depressive disorder, bipolar disorder and schizophrenia compared to controls identified by proteomic analysis of synaptic fractions isolated from postmortem tissue from the prefrontal cortex of autopsy cases with a clinical diagnosis ofmajor depressive disorder, bipolar disorder or schizophrenia
Impact of psychiatric and neurodegenerative disorders on synapse density in affected brain regions. — January 2028 to December 2029 Density of immunoreactive objects labelled with an antibody to pre and post synapse markers (vGlut1, PSD-95) in the prefrontal cortex, hippocampus and striatum from autopsy cases with a prior diagnosis of major depressive disorder, bipolar disorder, schizophrenia and unaffected controls and brain donors with neuropathological confirmation of Alzheimer's disease or frontotemporal dementia and unaffected controls.
Trial sites (1)
Facility
City
Region
Status
Research Institute Sant Pau
Barcelona
Spain
More Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau trials in Spain
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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