Skip to main content
OpenTrials
Completed

NCT Number: NCT01364857

French National Cohort of Children With Port Wine Stain

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Port Wine Stain Angiomatosis Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hemangioma Klippel Trenaunay Syndrome Klippel-Trenaunay-Weber Syndrome Neoplasms Neoplasms by Histologic Type Neoplasms, Vascular Tissue Nervous System Diseases Neurocutaneous Syndromes Parkes Weber Syndrome Port-Wine Stain Skin Abnormalities Skin Diseases Skin and Connective Tissue Diseases Sturge-Weber Syndrome Vascular Diseases

Age range

2 year–12 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Service de dermatologie, Amiens, France

Loading trial locations.

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

search for polymorphisms of RASA1 gene

Genetic

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

Primary outcomes

  1. 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 outcomes

  1. Mutations of RASA 1 gene

    Time frame: during the 5 years of follow up

    Mutations of RASA 1 gene

Sponsors and collaborators

Lead sponsor

University Hospital, Tours

Other

Registry information

Official study title

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

Acronym: CONAPE

Important dates

Study start
2010
Primary completion
2019
Study completion
2019
First posted
Jun 3, 2011
Registry last updated
Dec 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.