Port Wine StainCONAPENCT01364857
French National Cohort of Children With Port Wine Stain
A study testing search for polymorphisms of RASA1 gene in people with Port Wine Stain and Klippel Trenaunay Syndrome, run by University Hospital, Tours at 17 sites in France.
Trial 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). Read more about this study
- Who is it for?
- Ages 2 to 12 years
- Conditions the study is for
- Port Wine Stain, Klippel Trenaunay Syndrome, Parkes Weber Syndrome
- What is being tested?
- search for polymorphisms of RASA1 gene
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 17 sitesFrance
- Study dates
- Nov 2010to Nov 2019
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 12 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Who cannot join
- child with orthopedic impairment with no link with the port wine stain
Trial locations and contacts
17 sites in 1 country.
17 sites in 1 country
France17 sites
Service de dermatologie
Amiens, 80054
Service de dermatologie
Angers, 49933
Service de dermatologie
Bordeaux, 33000
Service de dermatologie
Caen, 14033
Service de dermatologie
Dijon, 21079
Service de Dermatologie, Bâtiment tardieu
Le Mans, 72037
Service de Dermatologie, Hôpital St Eloi
Montpellier, 34295
Service de dermatologie
Nantes, 44093
Service de dermatologie
Nice, 06202
Service de dermatologie
Paris, 75743
Service de dermatlogie
Quimper, 29107
Service de dermatologie
Reims, 51092
Service de Dermatologie, Hôpital Pontchaillou, CHU de Rennes
Rennes, 35033
Service de dermatologie
Rouen, 76031
Service de dermatologie
Saint-Etienne, 42055
Service de dermatologie
Toulouse, 31059
Service de dermatologie
Tours, 37044
About this study
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"
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.
Read the 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
- Being tested
- search for polymorphisms of RASA1 gene
- Keywords
- port wine stain of a limb
- Medical subject headings
- Port-Wine Stain, Klippel-Trenaunay-Weber Syndrome, Sturge-Weber Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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
| Study group | Role | What they receive |
|---|---|---|
| PWS cohort | Other | search for polymorphisms of RASA1 gene Receives: Genetic: search for polymorphisms of RASA1 gene |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: during the 5 years of follow up
Secondary outcomes (1)
Mutations of RASA 1 gene
Mutations of RASA 1 gene
Measured: during the 5 years of follow up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jun 2011 (estimated)
- Study startNov 2010
- Primary completionNov 2019
- Study completionNov 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Port Wine StainStudies of the same condition, open and under way.
- More trials run by University Hospital, ToursThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 150 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Tours
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Violaine MIZZI, Study chair, University Hospital, Tours
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01364857
- Sponsor's protocol ID
- PHRN09 - GL / CONAPE
- Acronym
- CONAPE
- Status last verified
- Aug 2023
- First submitted
- 31 May 2011
- Last updated
- 22 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 29110021
Study at a glance
From the registry record, last updated by the sponsor on 22 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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"
- ClinicalTrials.gov ID
- NCT01364857
- Acronym / sponsor ID
- CONAPE / PHRN09 - GL / CONAPE
- Keywords
- port wine stain of a limb
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 150 participants (actual)
- Lead sponsor
- University Hospital, ToursUniversity, hospital or other
- Study start
- Nov 2010 (actual)
- Primary completion
- Nov 2019 (actual)
- Study completion
- Nov 2019 (actual)
- First posted
- 3 Jun 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Primary purpose
- Prevention
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| PWS cohort | Other | Genetic: search for polymorphisms of RASA1 genesearch for polymorphisms of RASA1 gene |
Who may qualify
- Ages
- 2 to 12 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (1 listed)
- 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
Key exclusion criteria (1 listed)
- child with orthopedic impairment with no link with the port wine stain
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| search for polymorphisms of RASA1 geneBlood sample ( 5 mL) at tne inclusion of the child DNA extraction and genetic analysis of the 24 exons of RASA1 gene after specific consent | Genetic | PWS cohort |
Primary outcome
Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain)
Time frame: during the 5 years of follow up
Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain)
1 secondary outcome
Mutations of RASA 1 gene
Time frame: during the 5 years of follow up
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Dec 2025.
- Results publication: PubMed 29110021Maruani 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Violaine MIZZI study chair
University Hospital, Tours
17 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing search for polymorphisms of RASA1 gene in people with Port Wine Stain and Klippel Trenaunay Syndrome, run by University Hospital, Tours at 17 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 17 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Complicated evolution (defined as: vascular, orthopedic or systemic involvement linked with the port wine stain) (time frame: during the 5 years of follow up). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01364857, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Dec 2025.