SEDVasc (RaDiCo Cohort) (RaDiCo-SEDVasc)

Ehlers-Danlos Syndrome, Vascular Type Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05976841
• Other study ID #: C15-65
• Status: Recruiting
• Start date: December 5, 2016
• Est. completion date: December 5, 2023

Study information

• Verified date: July 2023
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: Xavier JEUNEMAITRE
• Phone: 01 56 09 38 81
• Email: xavier.jeunemaitre[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 340
• Est. completion date: December 5, 2023
• Est. primary completion date: December 5, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Ehlers-Danlos Syndrome
• Ehlers-Danlos Syndrome, Vascular Type
• Syndrome

Locations

Country	Name	City	State
France	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 Edouard Herriot	Lyon
France	Hôpital Femme Mère Enfant	Lyon
France	Hôpital de la Timone	Marseille
France	Hôpital Saint-Eloi	Montpellier
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

Sponsors (1)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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	Study of prospective genotype-phenotype relationships	Mutations of the COL3A1 gene are stratified within 5 classes (Frank et al. Eur J Hum Genet 2015): Glycine substitutions,; splice-site and in-frame insertions-deletions,; variants leading to haplo-insufficiency,; non-glycine missense variants within the triple helix,; 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
Secondary	Study of the intrafamilial phenotypes relationships	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
Secondary	Evaluation of the global cost of vEDS cares	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
Secondary	Evaluation of the therapeutic management	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
Secondary	Assessment of the correlation between the diffusion of arterial lesions and the occurrence of cardiovascular complication		Through study completion, an average of 3 years
Secondary	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
Secondary	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
Secondary	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
Secondary	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