Genetics of Central Nervous System Arteriovenous Malformations (GENE-MAV)

NCT04772963 | Recruiting

• 1 other identifier: SSA_2021_3
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

Cerebral and medullary arteriovenous malformations (AVMs) lead to arterial and venous networks to communicate pathologically, creating an arteriovenous shunt. The occurrence of intracranial haemorrhage is the most important prognostic factor of AVMs because it is associated with a significant morbidity and mortality. The genetic, molecular and cellular mechanisms that cause vascular malformations of the central nervous system are partially known and the influence of genetic damage on the prognosis of AVMs is poorly known.

Conditions

Arteriovenous Malformations

Outcome Measures

Primary Outcomes (1)

• Genetic mutation

  Presence of a pathogenic mutation in one of the genes tested in the panel or identification of a pathogenic mutation following sequencing of the exome and/or transcriptome of the patient and/or his/her parents.

  limit of 12 month

Interventions

blood sample GENETIC

During the arteriography a peripheral venous sampling

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The recruited population will be index cases with cerebrovascular cerebral vascular malformations treated in the participating centres

You may qualify if:

• 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.

You may not qualify if:

• Pregnant, parturient or breastfeeding woman

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

HOPITAL FONDATION Adolphe de ROTHSCHILD

Paris, 75019, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

EDTA and DNA Streck blood tubes

MeSH Terms

Conditions

Arteriovenous Malformations

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Vascular Malformations; Cardiovascular Abnormalities; Cardiovascular Diseases; Vascular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Stanislas Smajda, MD

  Fondation Ophtalmologique Adolphe de Rothschild

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Stanislas Smajda, MD

CONTACT

0148036454; ssmajda@for.paris

Amélie Yavchitz, MD

CONTACT

0148036454; ayavchitz@for.paris

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 23, 2021
• First Posted: February 26, 2021
• Study Start: February 17, 2022
• Primary Completion: March 1, 2026
• Study Completion (Estimated): March 1, 2027
• Last Updated: January 22, 2026

Record last verified: 2026-01

Locations

FR (1)