NCT05976841

Brief Summary

The goal of this observational study is to describe the natural course of vascular Ehlers-Danlos syndrome, in particular the order of appearance of different types of complications (arterial, digestive, pulmonary and uterine).

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
340

participants targeted

Target at P75+ for all trials

Timeline
20mo left

Started Dec 2016

Longer than P75 for all trials

Geographic Reach
1 country

17 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress85%
Dec 2016Jan 2028

Study Start

First participant enrolled

December 5, 2016

Completed
6.6 years until next milestone

First Submitted

Initial submission to the registry

July 18, 2023

Completed
17 days until next milestone

First Posted

Study publicly available on registry

August 4, 2023

Completed
4.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2028

Last Updated

February 12, 2026

Status Verified

February 1, 2026

Enrollment Period

11.1 years

First QC Date

July 18, 2023

Last Update Submit

February 10, 2026

Conditions

Ehlers-Danlos Syndrome, Vascular Type

Outcome Measures

Primary Outcomes (6)

  • Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on anatomical criteria (number and type of arterial lesions or angioscanner or MRI)

    Through study completion, an average of 3 years

  • Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on functional criteria (spontaneous arterial, digestive, obstetrical and pulmonary events)

    Through study completion, an average of 3 years

  • Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on surgical criteria (types and complications)

    Through study completion, an average of 3 years

  • Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on evaluation of the quality of life (impact on daily life, social life and professional activity)

    Through study completion, an average of 3 years

  • Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on evaluation of mortality (death, disability)

    Through study completion, an average of 3 years

  • Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on the presence of complications at delivery or after C-section

    Through study completion, an average of 3 years

Secondary Outcomes (9)

  • Study of prospective genotype-phenotype relationships

    Through study completion, an average of 3 years

  • Study of the intrafamilial phenotypes relationships

    Through study completion, an average of 3 years

  • Evaluation of the global cost of vEDS cares

    Through study completion, an average of 3 years

  • Evaluation of the therapeutic management

    Through study completion, an average of 3 years

  • Assessment of the correlation between the diffusion of arterial lesions and the occurrence of cardiovascular complication

    Through study completion, an average of 3 years

  • +4 more secondary outcomes

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients diagnosed as vEDS on a positive genetic testing on the COL3A1 gene.

You may qualify if:

  • Patients (adults and children) with genetically-proven vEDS (presence of a pathogenic mutation at the COL3A1 gene);
  • Patients (or his/her legal guardian) who does not oppose to his/her personal data collection.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (17)

Centre Hospitalier Universitaire Angers

Angers, France

Location

Hôpital Saint-André

Bordeaux, France

Location

Hôpital de la Cavale Blanche

Brest, France

Location

Hôpital Côte de Nacre

Caen, France

Location

Hôpital Gabriel Montpied

Clermont-Ferrand, France

Location

Hôpital Michallon

Grenoble, France

Location

Hôpital Claude Huriez

Lille, France

Location

Hôpital Edouard Herriot

Lyon, France

Location

Hôpital Femme Mère Enfant

Lyon, France

Location

Hôpital de la Timone

Marseille, France

Location

Hôpital Saint-Eloi

Montpellier, France

Location

Hôpital Brabois

Nancy, France

Location

Hôpital Hôtel Dieu

Nantes, France

Location

Hôpital Européen Georges Pompidou

Paris, France

Location

Hôpital Nord

Saint-Etienne, France

Location

Hôpital Rangueil

Toulouse, France

Location

Hôpital Trousseau

Tours, France

Location

MeSH Terms

Conditions

Ehlers-Danlos Syndrome, Type IV

Condition Hierarchy (Ancestors)

Aortic DissectionDissection, Blood VesselAneurysmVascular DiseasesCardiovascular DiseasesEhlers-Danlos SyndromeHemostatic DisordersHemorrhagic DisordersHematologic DiseasesHemic and Lymphatic DiseasesSkin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin Diseases, GeneticGenetic Diseases, InbornCollagen DiseasesConnective Tissue DiseasesSkin and Connective Tissue DiseasesSkin Diseases

Study Officials

  • Xavier JEUNEMAITRE

    INSERM UMR S970

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
OTHER GOV
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 18, 2023

First Posted

August 4, 2023

Study Start

December 5, 2016

Primary Completion (Estimated)

January 1, 2028

Study Completion (Estimated)

January 1, 2028

Last Updated

February 12, 2026

Record last verified: 2026-02

Data Sharing

IPD Sharing
Will not share

Locations

FR(17)