Идёт набор NCT06864000

Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy

— Наблюдательное Cerebral Amyloid Aβ Angiopathy

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
Кому может быть актуально: Состояния в реестре: Cerebral Amyloid Aβ Angiopathy. Базовые параметры: 18 лет — 99 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Франция
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Phenotypic and Molecular Characterisation of Early-onset Cerebral Amyloid Angiopathy

Обзор

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.

Подробное описание

This research is carried out on the same blood sample taken during the treatment and sent to the Rouen University Hospital Genetics Laboratory for research into point mutations or duplication of the APP gene as part of the diagnosis of cerebral amyloid angiopathy (CAA). For each gene, the proportions of variant carriers will be compared between cases and controls using a Fisher exact test with R statistical software. To rule out any population stratification bias, the tests will also be carried out using logistic regression adjusted on the first PCA axes (principal component analysis) using the seqmeta function. A Bonferroni correction will then be used to adjust the significance threshold according to the number of genes tested.

Первичные конечные точки

patients with APOE4 genetic risk factors [Срок оценки: 1 day]
patients with rare variants of SORL1 [Срок оценки: 1 day]
patients with rare variants of TREM2 [Срок оценки: 1 day]
patients with rare variants of ABCA7 [Срок оценки: 1 day]
patients with rare variants of ABCA1 [Срок оценки: 1 day]
patients with rare variants of ATP8B4 [Срок оценки: 1 day]

Вторичные конечные точки (6)

Genotype/clinical phenotype correlations [Срок оценки: 12 months]
Biological characterisation of AACs (Aβ42,CSF biomarkers) [Срок оценки: 12 months]
Biological characterisation of AACs (Aβ40, CSF biomarkers) [Срок оценки: 12 months]
Imaging characterisation of AACs (topography of cerebral bleeds) [Срок оценки: 12 months]
Imaging characterisation of AACs (typology of cerebral bleeds) [Срок оценки: 12 months]
Imaging characterisation of AACs (distribution of cerebral bleeds) [Срок оценки: 12 months]

Критерии участия

Критерии включения

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