French National Cohort of Children With Port Wine Stain - Full Text View

Purpose

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.

Condition	Intervention
Port Wine Stain Klippel Trenaunay Syndrome Parkes Weber Syndrome	Genetic: search for polymorphisms of RASA1 gene

Study Type:	Interventional
Study Design:	Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Prevention
Official Title:	French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur"

Resource links provided by NLM:

Genetics Home Reference related topics: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome hypohidrotic ectodermal dysplasia Klippel-Trenaunay syndrome Parkes Weber syndrome

U.S. FDA Resources

Further study details as provided by University Hospital, Tours:

Primary Outcome Measures:

complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain) [ Time Frame: during the 5 years of follow up ] [ Designated as safety issue: No ]

Secondary Outcome Measures:

mutations of RASA 1 gene [ Time Frame: during the 5 years of follow up ] [ Designated as safety issue: No ]

Estimated Enrollment:	150
Study Start Date:	November 2010
Estimated Primary Completion Date:	November 2018 (Final data collection date for primary outcome measure)

Intervention Details:

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

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

Eligibility

Ages Eligible for Study:	2 Years to 12 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01364857

Contacts

Contact: Gérard LORETTE, Pr	(33) 02 47 47 86 42	lorette@med.univ-tours.fr
Contact: Aurélie AVARGUES	(33) 02 47 47 46 38	aurelie.avargues@med.univ-tours.fr

Locations

France
Service de dermatologie	Recruiting
Amiens, France, 80054
Contact: Catherine LOK, Pr lok.catherine@chu-amiens.fr
Contact: Aurélie Avargues aurelie.avargues@med.chu-tours.fr
Principal Investigator: Catherine LOK, Pr
Service de dermatologie	Recruiting
Angers, France, 49933
Contact: Ludovic Martin, Dr LuMartin@chu-angers.fr
Contact: Aurélie Avargues aurelie.avargues@med.chu-tours.fr
Principal Investigator: Ludovic Martin, Dr
Service de dermatologie	Active, not recruiting
Bordeaux, France, 33000
Service de dermatologie	Active, not recruiting
Caen, France, 14033
Service de dermatologie	Recruiting
Dijon, France, 21079
Contact: Pierre Vabres, Pr pierre.vabres@chu-dijon.fr
Contact: Aurélie Avargues aurelie.avargues@med.chu-tours.fr
Principal Investigator: Pierre Vabres, Pr
Service de Dermatologie, Bâtiment tardieu	Recruiting
Le Mans, France, 72037
Contact: Nathalie BENETON-BENHARD, PH +33243432484 nbeneton@ch-lemans.fr
Contact: Aurélie AVARGUES +33247474638 aurelie.avargues@med.univ-tours.fr
Principal Investigator: Nathalie BENETON-BENHARD
Service de Dermatologie, Hôpital St Eloi	Recruiting
Montpellier, France, 34295
Contact: Didier BESSIS, PH +334 67 33 69 06 d-bessis@chu-montpellier.fr
Contact: Aurélie AVARGUES +33247474638 aurelie.avargues@med.univ-tours.fr
Principal Investigator: Didier BESSIS
Service de dermatologie	Recruiting
Nantes, France, 44093
Contact: Sébastien BARBAROT, Dr sebastien.barbarot@chu-nantes.fr
Contact: Aurélie AVARGUES aurelie.avargues@med.chu-tours.fr
Principal Investigator: Sébastien BARBAROT, Dr
Service de dermatologie	Recruiting
Nice, France, 06202
Contact: Jean-Philippe Lacour, Pr lacour.jp@chu-nice.fr
Contact: Aurélie Avargues aurelie.avargues@med.chu-tours.fr
Principal Investigator: Jean-Philippe Lacour, Pr
Service de dermatologie	Recruiting
Paris, France, 75743
Contact: Olivia Boccara, Dr olivia.boccara@nck.aphp.fr
Contact: Aurélie AVARGUES aurelie.avargues@med.chu-tours.fr
Principal Investigator: Olivia Boccara, Dr
Service de dermatlogie	Recruiting
Quimper, France, 29107
Contact: Patrice PLANTIN, Dr p.plantin@ch-cornouaille.fr
Contact: Aurélie Avargues aurelie.avargues@med.chu-tours.fr
Principal Investigator: Patrice Plantin, Dr
Service de dermatologie	Recruiting
Reims, France, 51092
Contact: catherine ESCHARD, dr ceschard@chu-reims.fr
Contact: Aurélie AVARGUES aurelie.avargues@med.chu-tours.fr
Principal Investigator: Catherine Eschard, Dr
Service de dermatologie	Recruiting
Rouen, France, 76031
Contact: Xavier BALGUERIE, Dr Xavier.Balguerie@chu-rouen.fr
Contact: Aurélie AVARGUES aurelie.avargues@med.univ-tours.fr
Principal Investigator: Xavier BALGUERIE, Dr
Service de dermatologie	Active, not recruiting
Saint-Etienne, France, 42055
Service de dermatologie	Recruiting
Toulouse, France, 31059
Contact: Juliette MAZEREEUW-HAUTIER, Pr mazereeuw-hautier.j@chu-toulouse.fr
Contact: Aurélie Avargues aurelie.avargues@med.chu-tours.fr
Principal Investigator: Juliette Mazereeuw-Hautier, Pr
Service de dermatologie	Recruiting
Tours, France, 37044
Contact: Gérard LORETTE, Pr lorette@med.univ-tours.fr
Contact: Aurélie AVARGUES aurelie.avargues@med.chu-tours.fr
Principal Investigator: Annabel MARUANI, Dr

Sponsors and Collaborators

University Hospital, Tours

More Information

No publications provided

Responsible Party:	University Hospital, Tours
ClinicalTrials.gov Identifier:	NCT01364857 History of Changes
Other Study ID Numbers:	PHRN09 - GL / CONAPE
Study First Received:	May 31, 2011
Last Updated:	January 16, 2013
Health Authority:	France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by University Hospital, Tours:

port wine stain of a limb

Additional relevant MeSH terms:

Klippel-Trenaunay-Weber Syndrome
Sturge-Weber Syndrome
Neurocutaneous Syndromes
Brain Stem Infarctions
Port-Wine Stain
Angiomatosis
Vascular Diseases
Cardiovascular Diseases
Hemangioma
Neoplasms, Vascular Tissue
Neoplasms by Histologic Type
Neoplasms
Nervous System Diseases
Ectodermal Dysplasia
Abnormalities, Multiple

Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Brain Infarction
Brain Ischemia
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Stroke
GTPase-Activating Proteins
GTP Phosphohydrolase Activators
Enzyme Activators
Molecular Mechanisms of Pharmacological Action

ClinicalTrials.gov processed this record on May 23, 2013

French National Cohort of Children With Port Wine Stain (CONAPE)