Genetic analysis of brain blood vessel malformations
Genetics of Central Nervous System Arteriovenous Malformations (AVM): Genotype-Phenotype Correlation and Prognostic Impact on Patients With AVM
This study is trying to see how certain genetic changes might affect the development and outcomes of brain blood vessel malformations in patients who have them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Sex | All |
| Sponsor | Fondation Ophtalmologique Adolphe de Rothschild Research network |
| Locations | 1 site (Paris) |
| Trial ID | NCT04772963 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding the genetic, molecular, and cellular mechanisms behind cerebral and medullary arteriovenous malformations (AVMs). It aims to investigate the influence of genetic mutations on the prognosis of AVMs, particularly in cases that are not linked to hereditary conditions. Patients with diagnosed vascular malformations will provide blood samples for genetic analysis, which may help clarify the role of specific mutations in AVM development and outcomes. The study is conducted at the Hôpital Fondation Adolphe de Rothschild in Paris.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with cerebral or medullary vascular malformations who are undergoing clinical monitoring or intervention.
Not a fit: Patients who are pregnant, parturient, or breastfeeding will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of arteriovenous malformations, potentially enhancing patient outcomes.
How similar studies have performed: While some studies have explored genetic factors in vascular malformations, this specific approach focusing on AVMs is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient with a vascular malformation of the cerebral or medullary identified on diagnostic imaging (angio-CT, angio-MRI or diagnostic angiography) for which clinical monitoring alone or intervention (endovascular treatment, surgery or radiosurgery) is planned in the centres participating in the research. Exclusion Criteria: * Pregnant, parturient or breastfeeding woman
Where this trial is running
Paris
- HOPITAL FONDATION Adolphe de ROTHSCHILD — Paris, France (Recruiting)
Study contacts
- Principal investigator: Stanislas Smajda, MD — Fondation Ophtalmologique Adolphe de Rothschild
- Study coordinator: Stanislas Smajda, MD
- Email: ssmajda@for.paris
- Phone: 0148036454
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.