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

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT01364857

Acronym

CONAPE

Enrollment

150

Registered

2011-06-03

Start date

2010-11-30

Completion date

2019-11-30

Last updated

2025-12-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Klippel Trenaunay Syndrome, Parkes Weber Syndrome, Port Wine Stain

Keywords

port wine stain of a limb

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

Interventions

GENETICsearch 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

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

PREVENTION

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

2 Years to 12 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
Mutations of RASA 1 gene	during the 5 years of follow up	Mutations of RASA 1 gene

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026