NCT01364857

French National Cohort of Children With Port Wine Stain

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 150 (actual)
• Sponsor: University Hospital, Tours · Academic / Other
• Sex: All
• Age: 2 Years – 12 Years
• Healthy volunteers: Not accepted

Summary

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

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

Conditions

• Port Wine Stain
• Klippel Trenaunay Syndrome
• Parkes Weber Syndrome

Interventions

Type	Name	Description
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

Timeline

• Start date: 2010-11-01
• Primary completion: 2019-11-01
• Completion: 2019-11-01
• First posted: 2011-06-03
• Last updated: 2025-12-22

Locations

17 sites across 1 country: France