Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy

Recruiting now

Conditions studied: Cerebral Amyloid Aβ Angiopathy

In brief

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.

Key facts

Study ID: NCT06864000
Run by: University Hospital, Rouen
People needed: 100
Starts: 2023-03-31
Expected to finish: 2027-12-30
Last updated by the study team: 2025-03-07

Who can join

Age: 18 and older, up to 99. Sex: any. Healthy volunteers: accepted.

You may qualify if…

Patients with a diagnosis of cerebral amyloid angiopathy (CAA) whose genetic samples are initially sent to the Rouen or Paris-Lariboisière genetics laboratories for molecular diagnosis of a genetic cause, thanks to national recruitment and for whom the patients consent to continuing genetic analyses for research purposes without feedback.
Diagnosis of cerebral amyloid angiopathy (CAA) certain or probable according to the modified Boston diagnostic criteria (1) (except age)
Age of onset of symptoms <66 years
Absence of APP mutation/duplication (analysis must already have been carried out in the laboratory on receipt of the sample as part of routine care)
Signed consent for research
Patient covered by a social security scheme

You may not qualify if…

Age at first neurological symptom > 66 years
Minor patients
Other differential diagnosis that better explains the clinical situation
Identification of mutations or duplication of the APP gene
AAC possible but not probable according to the revised Boston criteria
Patient deprived of liberty by judicial or administrative decision

Where it is running

University Hospital Rouen — Rouen, France (enrolling)

Full record on ClinicalTrials.gov

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