French National Cohort of Children With Port Wine Stain

Not Applicable

Completed

• Conditions: Klippel Trenaunay Syndrome; Parkes Weber Syndrome; Port Wine Stain
• Interventions: Genetic: search for polymorphisms of RASA1 gene

• Registration Number: NCT01364857
• Lead Sponsor: University Hospital, Tours

Brief 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

Study Timeline

• Study Start: 2010-11
• Study First Submitted: 2011-05-31
• Study First Submitted QC: 2011-06-02
• Study First Posted: 2011-06-03
• Primary Completion: 2019-11
• Study Completion: 2019-11
• Status Verified: 2023-08
• Last Update Submitted: 2023-08-11
• Last Update Posted: 2023-08-16

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 150

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
PWS cohort	search for polymorphisms of RASA1 gene	search for polymorphisms of RASA1 gene

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
Mutations of RASA 1 gene	during the 5 years of follow up	Mutations of RASA 1 gene

Trial Locations

Locations (5)

Service de Dermatologie, Hôpital St Eloi; 🇫🇷 Montpellier, France

Service de Dermatologie, Hôpital Pontchaillou, CHU de Rennes; 🇫🇷 Rennes, France

Service de dermatologie; 🇫🇷 Tours, France

Service de Dermatologie, Bâtiment tardieu; 🇫🇷 Le Mans, France

Service de dermatlogie; 🇫🇷 Quimper, France