Clinical trial Recruiting at 1 site Observational

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 typeObservational
SexAll
Enrollment300 (estimated)
SponsorFondation Ophtalmologique Adolphe de Rothschild
Research network
Locations1 site (Paris)
StatusRecruiting
StartedFebruary 17, 2022
Main results expectedFebruary 2027
Study endsMarch 2027
Registry record updatedNovember 9, 2026
Trial IDNCT04772963 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

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How to take part

  1. Review the eligibility criteria above with your treating physician.
  2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
  3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.
Last reviewed 2026-11-14 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.