Trials Sponsors Conditions Drugs Pricing

Conditions

Klippel Trenaunay Syndrome Parkes Weber Syndrome Port Wine Stain

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

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

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:

Sponsors & Collaborators

University Hospital, Tours
Otherlead

Study Sites (17)

Service de dermatologie

Amiens, 80054, France

Service de dermatologie

Angers, 49933, France

Service de dermatologie

Bordeaux, 33000, France

Service de dermatologie

Caen, 14033, France

Service de dermatologie

Dijon, 21079, France

Service de Dermatologie, Bâtiment tardieu

Le Mans, 72037, France

Service de Dermatologie, Hôpital St Eloi

Montpellier, 34295, France

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 TypeNeoplasms

Study Officials

Violaine MIZZI
University Hospital, Tours
STUDY CHAIR

Enrollment

150 participants (actual enrollment reported by the registry).

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 2010

Actual (reported)

Primary Completion

French National Cohort of Children With Port Wine Stain

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

PWS cohort

Interventions

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (17)

Related Publications (1)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

PWS cohort

Interventions

Eligibility Criteria

You may qualify if:

You may not qualify if:

Sponsors & Collaborators

Study Sites (17)

Related Publications (1)

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

Source record

Locations