French National Cohort of Children With Port Wine Stain

Study Overview
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Brief Summary
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Port Wine Stain on a limb can be either isolated or associated with complications (venous or orthopedic impairment, arteriovenous malformations), leading sometimes to complex syndromes (Klippel-Trenaunay syndrome,Parkes-Weber syndrome). Little is known about epidemiology of port wine stains: their evolution during the growth of the child, the frequency of complications, genetic data, and prognostic factors. This prospective french national cohort will help for : description of the evolution of port wine stain and possible complications; prognostic factors for complications ; association with mutations of RASA1 gene; quality of life of these children. It will also help for global appreciation of the management of this disease in France.

Detailed Description
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Prospective national study, including 16 Pediatric and Dermatologic Departments. Methods : each children with a port wine stain on a lower limb will be followed up for 5 years. Collected data : demographic data, clinical features, alterations of RASA1 gene, vascular evaluation by ultrasonographic and orthopedic evaluation by X rays, quality of life with a questionnaire. Inclusion period = 3 years Follow up period = 5 years Population = 150 children

Official Title
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French National Prospective Cohort of Children With Port Wine Stain on a Limb = Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur

Conditions
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Port Wine Stain, Klippel Trenaunay Syndrome, Parkes Weber Syndrome

Intervention / Treatment
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* Genetic: search for polymorphisms of RASA1 gene


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Child between 2 and 12 years old with a port wine stain on a lower limb ( or two lower limbs) with national health assurance with consent from one parent Exclusion Criteria: child with orthopedic impairment with no link with the port wine stain

Ages Eligible for Study
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Minimum Age: 2 Years
Maximum Age: 12 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Prevention
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: PWS cohort<br>search for polymorphisms of RASA1 gene | Genetic: search for polymorphisms of RASA1 gene<br>* Blood sample ( 5 mL) at tne inclusion of the child DNA extraction and genetic analysis of the 24 exons of RASA1 gene after specific consent<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain) | Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain) | during the 5 years of follow up | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Mutations of RASA 1 gene | Mutations of RASA 1 gene | during the 5 years of follow up | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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port wine stain of a limb