An observational study in Cerebral Amyloid Aβ Angiopathy, sponsored by University Hospital, Rouen. Recruiting at 1 site in France. Open to participants aged 18 Years to 99 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-03-07.
Sponsored by University Hospital, Rouen · Observational
Cerebral Aβ amyloid angiopathy is a severe disease characterised by amyloid deposits in the cerebral vessels, manifested mainly by recurrent cerebral haematomas and cognitive impairment. Diagnostic criteria are based on brain imaging, but the usefulness of this imaging in predicting the course of the disease remains undetermined. The genetic component is largely understudied. Less than 5% of patients carry mutations or duplications of the APP gene. Susceptibility factors such as APOE genotypes and rare variants recently discovered in Alzheimer's disease within the SORL1, TREM2 or ABCA7, ABCA1 and ATP8B4 genes could play a role in the pathophysiology of cerebral amyloid angiopathy. There is currently no specific treatment available. Based on a national recruitment of patients with cerebral amyloid angiopathy, this project aims to assess the role of genetic variants in the diagnosis and progression of cerebral amyloid angiopathy. A better understanding of the mechanisms, particularly genetic, could help us to develop treatments in the era of gene therapy.
This research is carried out on the same blood sample taken during the treatment and sent to the Rouen University Hospital Genetics Laboratory for research into point mutations or duplication of the APP gene as part of the diagnosis of cerebral amyloid angiopathy (CAA). For each gene, the proportions of variant carriers will be compared between cases and controls using a Fisher exact test with R statistical software. To rule out any population stratification bias, the tests will also be carried out using logistic regression adjusted on the first PCA axes (principal component analysis) using the seqmeta function. A Bonferroni correction will then be used to adjust the significance threshold according to the number of genes tested.
38 studies on the registry are indexed under Cerebral Amyloid Angiopathy; 9 are open to participants now.
This study's planned enrollment of 100 is above the median of 81 across 20 observational studies indexed under Cerebral Amyloid Angiopathy.
Browse Cerebral Amyloid Angiopathy studies →University Hospital, Rouen is the lead sponsor of 410 studies on the registry; 104 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Etude proposée aux patients adultes atteints d'angiopathie amyloïde cérébrale pour lesquels un prélèvement sanguin est prévu au titre du diagnostic dans le cadre du soin
Exclusion Criteria:
Control cohort corresponding to the FREX cohort (French Exome Project) including 585 exomes of healthy individuals (from 6 French regions) and whose data is already available to research groups for case-control association analysis.
Patients with APOE4 genetic risk factors and rare variants of SORL1, TREM2, ABCA7, ABCA1 and ATP8B4
patients with APOE4 genetic risk factors
Define the proportion of patients with APOE4 genetic risk factors (%) in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
Time frame: 1 day
patients with rare variants of SORL1
Define the proportion of patients with rare variants (%) of SORL1, in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
Time frame: 1 day
patients with rare variants of TREM2
Define the proportion of patients with rare variants (%) of TREM2 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
Time frame: 1 day
patients with rare variants of ABCA7
Define the proportion of patients with rare variants (%) of ABCA7 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
Time frame: 1 day
patients with rare variants of ABCA1
Define the proportion of patients with rare variants (%) of ABCA1 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
Time frame: 1 day
patients with rare variants of ATP8B4
Define the proportion of patients with rare variants (%) of ATP8B4 in patients with early-onset cerebral amyloid angiopathy (CAA) (\<66 years) and patients with causal mutations in the PSEN1 and PSEN2 genes.
Time frame: 1 day
Genotype/clinical phenotype correlations
Establish genotype/clinical phenotype correlations concerning the age of onset, the severity of the disease and the risk of recurrence of haematomas (identified during follow-up visits at M6 and M12 as part of routine care).
Time frame: 12 months
Biological characterisation of AACs (Aβ42,CSF biomarkers)
- assessment of the diagnostic value of assays for Aβ42 biomarkers currently validated in Alzheimer's disease and related neurocognitive disorders
Time frame: 12 months
Biological characterisation of AACs (Aβ40, CSF biomarkers)
- assessment of the diagnostic value of assays for Aβ40, CSF biomarkers currently validated in Alzheimer's disease and related neurocognitive disorders
Time frame: 12 months
Imaging characterisation of AACs (topography of cerebral bleeds)
- identification of biomarker profiles linked to the topography of cerebral bleeds
Time frame: 12 months
Imaging characterisation of AACs (typology of cerebral bleeds)
- identification of biomarker profiles linked to the typology of cerebral bleeds
Time frame: 12 months
Imaging characterisation of AACs (distribution of cerebral bleeds)
- identification of biomarker profiles linked to the distribution of cerebral bleeds
Time frame: 12 months
Plan to share: No — The data provided will be the property of the sponsor and will be used solely for its own research activities.
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University Hospital, Rouen