NCT06864000Recruiting
Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy
Phenotypic and Molecular Characterisation of Early-onset Cerebral Amyloid Angiopathy
Source: ClinicalTrials.gov · Last updated 7 Mar 2025 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 26 Feb 2025
- Start date
- 31 Mar 2023
- Primary completion date
- 30 Jul 2027
- Lead sponsor
- University Hospital, Rouen
- NCT number
- NCT06864000
What you commit to
- Study type: Observational
- Planned participants: 100
- From 31 Mar 2023 to the primary completion date, 30 Jul 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Age
- Age at first neurological symptom \> 66 years
Other
- 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
Who the study is looking for
- 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
Age in the registry: 18 years to 99 years · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University Hospital, Rouen Coordinator of this site? Confirm its status | Rouen | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.