Actively Recruiting
Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy
Led by University Hospital, Rouen · Updated on 2025-03-07
100
Participants Needed
1
Research Sites
247 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients diagnosed with cerebral amyloid angiopathy (CAA) whose genetic samples are sent to Rouen or Paris-Lariboisi8re genetics laboratories for molecular diagnosis
- Diagnosis of certain or probable CAA by modified Boston diagnostic criteria (excluding age)
- Symptom onset before 66 years of age
- No APP gene mutation or duplication detected
- Signed consent to continue genetic analyses for research without feedback
- Patient covered by a social security scheme
You will not qualify if you...
- Age at first neurological symptom over 66 years
- Minor patients
- Presence of other diagnoses that better explain the clinical situation
- Identification of APP gene mutation or duplication
- CAA possible but not probable by revised Boston criteria
- Patient deprived of liberty by judicial or administrative decision
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University Hospital Rouen
Rouen, France, 76031
Actively Recruiting
Research Team
D
David DM MALLET, Director
CONTACT
V
Vincent VF FERRANTI, Arc
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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