French National Cohort of Children With Port Wine Stain

Overview

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.

Full Title of Study: “French National Prospective Cohort of Children With Port Wine Stain on a Limb = “Cohorte Nationale d’Enfants Avec Angiome Plan de Membre inférieur””

Study Type

  • Study Type: Interventional
  • Study Design
    • Allocation: N/A
    • Intervention Model: Single Group Assignment
    • Primary Purpose: Prevention
    • Masking: None (Open Label)
  • Study Primary Completion Date: November 2019

Detailed Description

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

Interventions

  • Genetic: search for polymorphisms of RASA1 gene
    • 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

Arms, Groups and Cohorts

  • Other: PWS cohort
    • search for polymorphisms of RASA1 gene

Clinical Trial Outcome Measures

Primary Measures

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

Secondary Measures

  • Mutations of RASA 1 gene
    • Time Frame: during the 5 years of follow up
    • Mutations of RASA 1 gene

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: 2 Years

Maximum Age: 12 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University Hospital, Tours
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Violaine MIZZI, Study Chair, University Hospital, Tours

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