CAPILLARY MALFORMATIONS, FROM GENOTYPE TO PHENOTYPE: A FOCUS ON ENDOTHELIAL FUNCTIO
Recruiting
- Conditions
- Capillary malformations, Sturge-Weber syndrome
- Registration Number
- NL-OMON25780
- Lead Sponsor
- /A
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 20
Inclusion Criteria
Patients with (a) PWS(s) or PWSs as part of the Sturge-Weber syndrome.
-Patients from and above the age of 18 years.
-Patients of both sexes, and all Fitzpatrick skin types.
Exclusion Criteria
-Patients with a facial PWS that does not extend into the hairline (to prevent possible scar formation on a visible location)
-Patients with a different type of vascular malformation; non-port wine stain
-Patients with a mix of vascular malformations
-Patients with a coagulation disorder leading to prolonged bleeding.
-Patients using blood anticoagulants (excluding NSAIDs), such as clopidogrel, heparin, dipyridamole, or other variants.
-Patients who are likely not able to understand the terms and risks of the study (e.g. cognitive impairment).
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To assess if somatic mutations in the GNAQ, GNA11, RASA1 or PIK3CA gene are present in PWSs, and link to PWS characteristics.
- Secondary Outcome Measures
Name Time Method To assess the biochemical profile, barrier function, angiogenic sprouting capacity and wound healing properties of endothelial cells from blood vessels of PWSs.