Genetic analysis of brain blood vessel malformations
Official title: Genetics of Central Nervous System Arteriovenous Malformations (AVM): Genotype-Phenotype Correlation and Prognostic Impact on Patients With AVM
Run by Fondation Ophtalmologique Adolphe de Rothschild · NCT04772963 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 300 (estimated) |
| Sponsor | Fondation Ophtalmologique Adolphe de Rothschild Research network |
| Locations | 1 site (Paris) |
| Status | Recruiting |
| Started | February 17, 2022 |
| Main results expected | February 2027 |
| Study ends | March 2027 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT04772963 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients diagnosed with cerebral or medullary vascular malformations who are undergoing clinical monitoring or intervention.
✕Probably not a fit
Patients who are pregnant, parturient, or breastfeeding will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While some studies have explored genetic factors in vascular malformations, this specific approach focusing on AVMs is relatively novel.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Evaluating outcomes in neurosurgery using standardized measures
This study is trying to see how different factors affect the results of brain surgeries by collecting information from patients before and after their operations.
-
Registry for patients with Hereditary Hemorrhagic Telangiectasia
This study is collecting information from people with Hereditary Hemorrhagic Telangiectasia to better understand the condition and help improve treatments in the future.
-
Targeted therapies for patients with vascular malformations
This study is testing new targeted treatments for patients with slow-flow and fast-flow vascular malformations to see if they work better than the usual therapies.
-
Pregnancy in women with rare vascular diseases
This study is trying to learn about the pregnancy challenges faced by women with rare vascular diseases to help improve care for them and their babies.
-
Long-term follow-up for patients with brain arteriovenous malformations after treatment
This study looks at how well patients with brain arteriovenous malformations do over time after receiving a specific treatment called embolization.
-
Treatment options for brain arteriovenous malformations
This study is testing different treatment options for people with brain arteriovenous malformations to see which ones work best in preventing serious problems like stroke or death over ten years.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.