SEDVasc (RaDiCo Cohort) (RaDiCo-SEDVasc)

Active, not recruiting

• Conditions: Ehlers-Danlos Syndrome, Vascular Type

• Registration Number: NCT05976841
• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

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).

Detailed Description

Not available

Study Timeline

• Study Start: 2016-12-05
• Study First Submitted: 2023-07-18
• Study First Submitted QC: 2023-07-26
• Study First Posted: 2023-08-04
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-29
• Last Update Posted: 2025-01-30
• Primary Completion: 2028-01
• Study Completion: 2028-01

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 340

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.

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 the presence of complications at delivery or after C-section	Through study completion, an average of 3 years
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 evaluation of mortality (death, disability)	Through study completion, an average of 3 years

Secondary Outcome Measures

Name	Time	Method
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)	Through study completion, an average of 3 years
Study of prospective genotype-phenotype relationships	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.
Evaluation of the global cost of vEDS cares	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.
Assessment of the correlation between the diffusion of arterial lesions and the occurrence of cardiovascular complication	Through study completion, an average of 3 years
Study of the intrafamilial phenotypes relationships	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.).
Evaluation of the therapeutic management	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.
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)	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	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	Through study completion, an average of 3 years

Trial Locations

Locations (17)

Centre Hospitalier Universitaire Angers; 🇫🇷 Angers, France

Hôpital Saint-André; 🇫🇷 Bordeaux, France

Hôpital de la Cavale Blanche; 🇫🇷 Brest, France

Hôpital Côte de Nacre; 🇫🇷 Caen, France

Hôpital Gabriel Montpied; 🇫🇷 Clermont-Ferrand, France

Hôpital Michallon; 🇫🇷 Grenoble, France

Hôpital Claude Huriez; 🇫🇷 Lille, France

Hôpital Brabois; 🇫🇷 Nancy, France

Hôpital Hôtel Dieu; 🇫🇷 Nantes, France

Hôpital Européen Georges Pompidou; 🇫🇷 Paris, France

Hôpital Nord; 🇫🇷 Saint-Étienne, France

Hôpital Rangueil; 🇫🇷 Toulouse, France

Hôpital Trousseau; 🇫🇷 Tours, France

Hôpital Edouard Herriot; 🇫🇷 Lyon, France

Hôpital Femme Mère Enfant; 🇫🇷 Lyon, France

Hôpital de la Timone; 🇫🇷 Marseille, France

Hôpital Saint-Eloi; 🇫🇷 Montpellier, France