NCT01364857

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
150

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Nov 2010

Longer than P75 for not_applicable

Geographic Reach
1 country

17 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 2010

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

May 31, 2011

Completed
3 days until next milestone

First Posted

Study publicly available on registry

June 3, 2011

Completed
8.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 1, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 1, 2019

Completed
Last Updated

December 22, 2025

Status Verified

August 1, 2023

Enrollment Period

9 years

First QC Date

May 31, 2011

Last Update Submit

December 15, 2025

Conditions

Port Wine StainKlippel Trenaunay SyndromeParkes Weber Syndrome

Keywords

port wine stain of a limb

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (1)

  • Mutations of RASA 1 gene

    during the 5 years of follow up

Study Arms (1)

PWS cohort

OTHER

search for polymorphisms of RASA1 gene

Genetic: search for polymorphisms of RASA1 gene

Interventions

search for polymorphisms of RASA1 geneGENETIC

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

PWS cohort

Eligibility Criteria

Age2 Years - 12 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)

You may qualify if:

  • 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

You may not qualify if:

  • child with orthopedic impairment with no link with the port wine stain

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (17)

Service de dermatologie

Amiens, 80054, France

Location

Service de dermatologie

Angers, 49933, France

Location

Service de dermatologie

Bordeaux, 33000, France

Location

Service de dermatologie

Caen, 14033, France

Location

Service de dermatologie

Dijon, 21079, France

Location

Service de Dermatologie, Bâtiment tardieu

Le Mans, 72037, France

Location

Service de Dermatologie, Hôpital St Eloi

Montpellier, 34295, France

Location

Service de dermatologie

Nantes, 44093, France

Location

Service de dermatologie

Nice, 06202, France

Location

Service de dermatologie

Paris, 75743, France

Location

Service de dermatlogie

Quimper, 29107, France

Location

Service de dermatologie

Reims, 51092, France

Location

Service de Dermatologie, Hôpital Pontchaillou, CHU de Rennes

Rennes, 35033, France

Location

Service de dermatologie

Rouen, 76031, France

Location

Service de dermatologie

Saint-Etienne, 42055, France

Location

Service de dermatologie

Toulouse, 31059, France

Location

Service de dermatologie

Tours, 37044, France

Location

Related Publications (1)

  • Maruani A, Durieux-Verde M, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Beneton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Berthelot A, Lorette G, Leducq S, Samimi M, Andres C, Caille A, Vourc'h P; Groupe de Recherche de la Societe Francaise de Dermatologie. Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE. Acta Derm Venereol. 2018 Feb 7;98(2):251-255. doi: 10.2340/00015555-2835.

    PMID: 29110021RESULT

MeSH Terms

Conditions

Port-Wine StainKlippel-Trenaunay-Weber SyndromeSturge-Weber Syndrome

Condition Hierarchy (Ancestors)

Skin AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin DiseasesSkin and Connective Tissue DiseasesAngiomatosisVascular DiseasesCardiovascular DiseasesHemangiomaNeoplasms, Vascular TissueNeoplasms by Histologic TypeNeoplasmsNeurocutaneous SyndromesNervous System Diseases

Study Officials

  • Violaine MIZZI

    University Hospital, Tours

    STUDY CHAIR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
PREVENTION
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 31, 2011

First Posted

June 3, 2011

Study Start

November 1, 2010

Primary Completion

November 1, 2019

Study Completion

November 1, 2019

Last Updated

December 22, 2025

Record last verified: 2023-08

Locations

FR(17)