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 Type
OBSERVATIONAL
Enrollment
340
Centre Hospitalier Universitaire Angers
Angers, France
Hôpital Saint-André
Bordeaux, France
Hôpital de la Cavale Blanche
Brest, France
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
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
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
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
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
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
Study of prospective genotype-phenotype relationships
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.
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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
...and 7 more locations
Time frame: Through study completion, an average of 3 years
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.).
Time frame: Through study completion, an average of 3 years
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.
Time frame: Through study completion, an average of 3 years
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.
Time frame: 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
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
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
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
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