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Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy

Recruitingn/aAges 18 Years - 99 YearsAllUniversity Hospital, Rouen
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In plain words

What the trial is, and whether it could suit you

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 pr

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
University Hospital Rouen
Rouen, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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