Characterizing Cerebral Amyloid Angiopathy
Phenotypic and Molecular Characterisation of Early-onset Cerebral Amyloid Angiopathy
This study is trying to find out if certain genetic changes are linked to cerebral amyloid angiopathy, a condition that causes brain bleeding and memory problems, by looking at blood samples from patients.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years to 99 Years |
| Sex | All |
| Sponsor | University Hospital, Rouen Academic / other |
| Locations | 1 site (Rouen) |
| Trial ID | NCT06864000 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on cerebral amyloid angiopathy (CAA), a severe condition characterized by amyloid deposits in cerebral vessels, leading to recurrent cerebral hematomas and cognitive decline. It aims to investigate the genetic components associated with CAA by analyzing blood samples for mutations or duplications of the APP gene and other susceptibility factors. The study will compare genetic variant carriers between cases and controls using statistical methods to better understand the disease's progression and diagnosis. The research is conducted at the Rouen University Hospital, leveraging national patient recruitment.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with cerebral amyloid angiopathy under the age of 66 who have consented to genetic research.
Not a fit: Patients over the age of 66 or those with identified APP mutations or duplications may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance the understanding of genetic factors in cerebral amyloid angiopathy, potentially leading to improved diagnostic and prognostic tools.
How similar studies have performed: While studies on genetic factors in related conditions exist, this specific focus on cerebral amyloid angiopathy and its genetic characterization is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Rouen
- University Hospital Rouen — Rouen, France (Recruiting)
Study contacts
- Principal investigator: Lou LG GRANGEON, Doctor — University Rouen Hospital
- Study coordinator: David DM MALLET, Director
- Email: Secretariat.DRC@chu-rouen.fr
- Phone: +33 2 32 88 82 65
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.