Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy

Launched by UNIVERSITY HOSPITAL, ROUEN · Mar 4, 2025

Keywords

ClinConnect Summary

This clinical trial is investigating a condition called Cerebral Amyloid Angiopathy (CAA), which involves the build-up of a protein called amyloid in the blood vessels of the brain. This build-up can lead to serious problems like repeated bleeding in the brain and difficulties with thinking and memory. The study aims to better understand the genetic factors that might influence the diagnosis and progression of CAA, which could help in developing new treatments in the future.

To participate in this trial, individuals must have a confirmed diagnosis of CAA and be between 65 and 74 years old. They should not have certain genetic mutations related to the disease and must be willing to provide genetic samples for research. Participants will be asked to consent to further genetic analysis without being given individual results back. The trial is currently recruiting participants, and it is important to note that there is no specific treatment for CAA at this time. By joining this study, participants can contribute to crucial research that could enhance our understanding of this disease and potentially lead to better therapies.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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
• Exclusion Criteria:
• • 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