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ID
Source
Brief title
Health condition
Capillary malformations, Sturge-Weber syndrome
Sponsors and support
Intervention
Outcome measures
Primary outcome
To assess if somatic mutations in the GNAQ, GNA11, RASA1 or PIK3CA gene are present in PWSs, and link to PWS characteristics.
Secondary outcome
To assess the biochemical profile, barrier function, angiogenic sprouting capacity and wound healing properties of endothelial cells from blood vessels of PWSs.
Background summary
Rationale:
A capillary malformation (a.k.a. port wine stain, PWS) is a rare congenital condition that arises in 0.04-2.1% of newborns. Affected patients show solitary PWSs, or PWSs together with various symptoms, ranging from bone and soft tissue overgrowth to glaucoma and epilepsy due to leptomeningeal angiomatosis. It is suggested to be caused by genetic mutations in the GNAQ, GNA11, RASA1 or PIK3CA gene, but the exact roles in the origin of this condition is still unknown. As no curative treatment yet exists, unraveling the role of the genetic mutations will not only lead to new insights on the origin of PWSs, but may also lead to new therapeutic strategies for PWSs in the future.
Objective:
The main objective of this study is to investigate the genetic and biochemical profile of blood vessels of port wine stains. Subsequently, assess if the genetic mutations of the port wine stains relate to differences in endothelial function and characteristics of port wine stains. Study design: This will be a case series.
Study population:
We will include adults with a port wine stain that are currently receiving treatment with laser therapy at the department of dermatology at the Amsterdam UMC location AMC.
Intervention (if applicable): We will collect two skin biopsies of the port wine stain of 3 mm and 4 mm at the time the study participants undergo their regular laser treatment at the Amsterdam UMC location AMC. Additionally, of two randomly selected patients we will take one control biopsy of 4 mm of healthy tissue. The course of laser therapy will not change due to participation in this study.
Main study parameters/endpoints:
The main study parameter is the presence of the GNAQ, GNA11, RASA1 or PIK3CA gene mutation in study participants, the secondary parameter is the biochemical profile, barrier function, angiogenic sprouting capacity and wound healing properties of endothelial cells from blood vessels of PWS.
Study objective
Deviant endothelial function compared to healthy skin
Study design
Patients will come for treatment. If consent was given, two/three skin biopsies will be taken. Subsequently the scheduled therapy will be given. Would healing will be assessed at follow up (max 3 months after biopsy was given).
Intervention
Skin biopsy
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).
Design
Recruitment
IPD sharing statement
Followed up by the following (possibly more current) registration
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Other (possibly less up-to-date) registrations in this register
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In other registers
| Register | ID |
|---|---|
| NTR-new | NL9295 |
| Other | METC AMC : METC2020_269 |