This trial is active, not recruiting.

Conditions port wine stain, klippel trenaunay syndrome, parkes weber syndrome
Treatment search for polymorphisms of rasa1 gene
Sponsor University Hospital, Tours
Start date November 2010
End date November 2019
Trial size 150 participants
Trial identifier NCT01364857, PHRN09 - GL / CONAPE


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.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Intervention model single group assignment
Masking open label
Primary purpose prevention
search for polymorphisms of RASA1 gene
search 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

Primary Outcomes

complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain)
time frame: during the 5 years of follow up

Secondary Outcomes

mutations of RASA 1 gene
time frame: during the 5 years of follow up

Eligibility Criteria

Male or female participants from 2 years up to 12 years old.

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

Additional Information

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"
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
Trial information was received from ClinicalTrials.gov and was last updated in January 2016.
Information provided to ClinicalTrials.gov by University Hospital, Tours.