SEDVasc (RaDiCo Cohort) (RaDiCo-SEDVasc)

February 10, 2026 updated by: Institut National de la Santé Et de la Recherche Médicale, France

National Cohort on the Vascular Ehlers-Danlos Syndrome (SEDv)

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).

Study Overview

Status

Active, not recruiting

Conditions

Study Type

Observational

Enrollment (Actual)

340

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Angers, France
        • Centre Hospitalier Universitaire Angers
      • Bordeaux, France
        • Hôpital Saint-André
      • Brest, France
        • Hôpital de la Cavale Blanche
      • Caen, France
        • Hôpital Côte De Nacre
      • Clermont-Ferrand, France
        • Hopital Gabriel Montpied
      • Grenoble, France
        • Hôpital Michallon
      • Lille, France
        • Hopital Claude Huriez
      • Lyon, France
        • Hopital Edouard Herriot
      • Lyon, France
        • Hopital Femme Mere Enfant
      • Marseille, France
        • Hopital de la Timone
      • Montpellier, France
        • Hopital Saint-Eloi
      • Nancy, France
        • Hôpital Brabois
      • Nantes, France
        • Hôpital Hôtel Dieu
      • Paris, France
        • Hôpital Européen Georges Pompidou
      • Saint-Etienne, France
        • Hopital Nord
      • Toulouse, France
        • Hôpital Rangueil
      • Tours, France
        • Hôpital Trousseau

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

Patients eligible for inclusion in this study have to fulfil all of the following criteria:

  • 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.

There are no exclusion criteria for this study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
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)
Time Frame: Through study completion, an average of 3 years
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)
Time Frame: Through study completion, an average of 3 years
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)
Time Frame: Through study completion, an average of 3 years
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)
Time Frame: Through study completion, an average of 3 years
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)
Time Frame: Through study completion, an average of 3 years
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
Time Frame: Through study completion, an average of 3 years
Through study completion, an average of 3 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Study of prospective genotype-phenotype relationships
Time Frame: Through study completion, an average of 3 years

Mutations of the COL3A1 gene are stratified within 5 classes (Frank et al. Eur J Hum Genet 2015):

  1. Glycine substitutions,
  2. splice-site and in-frame insertions-deletions,
  3. variants leading to haplo-insufficiency,
  4. non-glycine missense variants within the triple helix,
  5. non-glycine missense variants or in-frame insertions-deletions, in the N- or C-terminal part of the protein

An association study between the type of mutation in the COL3A1 gene (individually or combined in two groups: (a+b) versus (c+d+e)) and the clinical phenotype or co-factors of morbidity (medication, lifestyle, smoking, physical activity…) will be performed. This study will be based on explicative multivariate analysis (e.g.: PCA, Logistic regression, ect.) and relevant association will be quantified by the corresponding correlation coefficient.
Through study completion, an average of 3 years
Study of the intrafamilial phenotypes relationships
Time Frame: Through study completion, an average of 3 years
This study will be based on an explicative multivariate analysis (eg: PCA, Logistic regression, ect.) and relevant associations will be quantified by the corresponding correlation coefficients. Distribution of clinical symptoms with a positive correlation with the family history, will be displayed and illustrated by appropriate graphic method (Bar chart, box plot, forest plot, etc.).
Through study completion, an average of 3 years
Evaluation of the global cost of vEDS cares
Time Frame: Through study completion, an average of 3 years

The analysis of the global cost of vEDS cares will be detailed by type of expenditure. The average cost will be estimated with health-care payer's perspective, i.e. the French health insurance system.

After estimating the average global cost of vEDS cares, including both standard pathway's cost and vEDS' cost, a Tornado diagram will analyse the impact of the change of one or more parameters used in the analysis process. This will allow us to identify which parameters have an impact on the result by introducing uncertainties on values used. These parameters will vary in a range obtained by literature review, expert opinion or arbitrarily by simulation on a normal distribution.

All the results will be drafted in statistical medico-economic analysis report to be presented to all investigators at the end of the study.
Through study completion, an average of 3 years
Evaluation of the therapeutic management
Time Frame: Through study completion, an average of 3 years
A descriptive analysis of the different types of medication (celiprolol alone or associated to another drug) and their association to disease progression and life style will be performed by evaluating the number of lesions and/or the increased severity of the lesions and/or the appearance of lesions at different anatomical site.
Through study completion, an average of 3 years
Assessment of the correlation between the diffusion of arterial lesions and the occurrence of cardiovascular complication
Time Frame: Through study completion, an average of 3 years
Through study completion, an average of 3 years
Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire Short-Form Health Survey (SF-36)
Time Frame: Through study completion, an average of 3 years
Through study completion, an average of 3 years
Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire Short-Form Health Survey (SF-10)
Time Frame: Through study completion, an average of 3 years
Through study completion, an average of 3 years
Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire HADS
Time Frame: Through study completion, an average of 3 years
Through study completion, an average of 3 years
Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire socio-professional life
Time Frame: Through study completion, an average of 3 years
Through study completion, an average of 3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Investigators

  • Principal Investigator: Xavier JEUNEMAITRE, INSERM UMR S970

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 5, 2016

Primary Completion (Estimated)

January 1, 2028

Study Completion (Estimated)

January 1, 2028

Study Registration Dates

First Submitted

July 18, 2023

First Submitted That Met QC Criteria

July 26, 2023

First Posted (Actual)

August 4, 2023

Study Record Updates

Last Update Posted (Actual)

February 12, 2026

Last Update Submitted That Met QC Criteria

February 10, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C15-65

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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