Clinical trial NCT05976841: SEDVasc (RaDiCo Cohort) (RaDiCo-SEDVasc)
Official title: National Cohort on the Vascular Ehlers-Danlos Syndrome (SEDv)
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Ehlers-Danlos Syndrome, Vascular Type
Lead sponsor: Institut National de la Santé Et de la Recherche Médicale, France
Sponsor class: OTHER_GOV
First posted: 2023-08-04
Enrollment: 340
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients diagnosed as vEDS on a positive genetic testing on the COL3A1 gene.

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).


Eligibility criteria: 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.

Primary outcomes:
measure: 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)
timeFrame: Through study completion, an average of 3 years
measure: Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on functional criteria (spontaneous arterial, digestive, obstetrical and pulmonary events)
timeFrame: Through study completion, an average of 3 years
measure: Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on surgical criteria (types and complications)
timeFrame: Through study completion, an average of 3 years
measure: 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)
timeFrame: Through study completion, an average of 3 years
measure: Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on evaluation of mortality (death, disability)
timeFrame: Through study completion, an average of 3 years
measure: Description of the natural course of vascular Ehlers-Danlos syndrome (vEDS) based on the presence of complications at delivery or after C-section
timeFrame: Through study completion, an average of 3 years
Secondary outcomes:
measure: Study of prospective genotype-phenotype relationships
timeFrame: Through study completion, an average of 3 years
measure: Study of the intrafamilial phenotypes relationships
timeFrame: Through study completion, an average of 3 years
measure: Evaluation of the global cost of vEDS cares
timeFrame: Through study completion, an average of 3 years
measure: Evaluation of the therapeutic management
timeFrame: Through study completion, an average of 3 years
measure: Assessment of the correlation between the diffusion of arterial lesions and the occurrence of cardiovascular complication
timeFrame: Through study completion, an average of 3 years
measure: 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)
timeFrame: Through study completion, an average of 3 years
measure: 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)
timeFrame: Through study completion, an average of 3 years
measure: Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire HADS
timeFrame: Through study completion, an average of 3 years
measure: Assessment of the repercussions of vEDS on patients' quality of life evaluated through scores of quality of life questionnaire socio-professional life
timeFrame: Through study completion, an average of 3 years
Other outcomes:
Locations:
city: Angers
country: France
facility: Centre Hospitalier Universitaire Angers
city: Bordeaux
country: France
facility: Hôpital Saint-André
city: Brest
country: France
facility: Hôpital de la Cavale Blanche
city: Caen
country: France
facility: Hôpital Côte de Nacre
city: Clermont-Ferrand
country: France
facility: Hôpital Gabriel Montpied
city: Grenoble
country: France
facility: Hôpital Michallon
city: Lille
country: France
facility: Hôpital Claude Huriez
city: Lyon
country: France
facility: Hôpital Edouard Herriot
city: Lyon
country: France
facility: Hôpital Femme Mère Enfant
city: Marseille
country: France
facility: Hôpital de la Timone
city: Montpellier
country: France
facility: Hôpital Saint-Eloi
city: Nancy
country: France
facility: Hôpital Brabois
city: Nantes
country: France
facility: Hôpital Hôtel Dieu
city: Paris
country: France
facility: Hôpital Européen Georges Pompidou
city: Saint-Étienne
country: France
facility: Hôpital Nord
city: Toulouse
country: France
facility: Hôpital Rangueil
city: Tours
country: France
facility: Hôpital Trousseau
Study officials:
affiliation: INSERM UMR S970
name: Xavier JEUNEMAITRE
role: PRINCIPAL_INVESTIGATOR
References: