An interventional study of search for polymorphisms of RASA1 gene in Port Wine Stain, Klippel Trenaunay Syndrome and Parkes Weber Syndrome, sponsored by University Hospital, Tours. Completed at 17 sites in France. Open to participants aged 2 Years to 12 Years. Per ClinicalTrials.gov, last updated 2025-12-22.
Sponsored by University Hospital, Tours · Not applicable, Interventional, and Prevention
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.
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
45 studies on the registry are indexed under Port-Wine Stain; 7 are open to participants now.
This study's enrollment of 150 is above the median of 29 across 30 interventional studies indexed under Port-Wine Stain.
Browse Port-Wine Stain studies →University Hospital, Tours is the lead sponsor of 307 studies on the registry; 79 are open to participants now.
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Exclusion Criteria:
search for polymorphisms of RASA1 gene
Genetic: 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
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)
Time frame: during the 5 years of follow up
Mutations of RASA 1 gene
Mutations of RASA 1 gene
Time frame: during the 5 years of follow up
Ran from Nov 2010 to primary completion in Nov 2019, 108 months.
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This study is completed, as verified in Aug 2023. You cannot join it, but the record below documents what was studied.
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