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This study characterises the phenotypic and molecular features of cerebral amyloid angiopathy, a disease of the brain's blood vessels, to help identify its genetic causes. Patients with certain or probable disease according to the modified Boston criteria, symptom onset before age 66, and without an APP gene mutation or duplication may take part. Conducted by University Hospital, Rouen, this study without an assigned phase is currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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