RecruitingPhase 2NCT06789913
Neurological
Sturge-Weber Syndrome
Also known as SWS, encephalotrigeminal angiomatosis, GNAQ somatic mosaic mutation
Sturge-Weber syndrome is caused by a somatic mosaic gain-of-function mutation in GNAQ (p.
ORPHA:3205 ↗Gene GNAQPrevalence 1-9 per 100,000 (Orphanet)Onset Neonatal, InfantileSomatic mosaic mutation (non-inherited in most cases)
7
studies recruiting now
as of 7 Sept 2026
31
studies registered in total
as of 7 Sept 2026
10
countries with a recruiting site
as of 7 Sept 2026
17 Jun 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01761981
Institutional Registry of Haemorrhagic Hereditary Telangiectasia
RecruitingPhase 3NCT07285005
A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome
RecruitingNCT07655492
Developing a Tailored Neuropsychological Rehabilitation for Sturge-Weber Syndrome
RecruitingNCT02399527
Lymphatic Anomalies Registry for the Assessment of Outcome Data
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 7 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Sturge-Weber Syndrome study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: Sturge-Weber Foundation Patient Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Sturge-Weber Syndrome
Sturge-Weber syndrome is caused by a somatic mosaic gain-of-function mutation in GNAQ (p.R183Q), which arises during early embryogenesis and leads to abnormal vascular development. The hallmark is a port-wine birthmark (capillary malformation) on the face, ipsilateral leptomeningeal angiomatosis (brain vascular malformation), and glaucoma. Neurological complications include seizures, stroke-like episodes, focal weakness, and progressive intellectual disability due to brain damage from chronic venous hypertension.
Common clinical features
Port-wine birthmark on face (trigeminal distribution)SeizuresGlaucomaHemiplegiaHeadachesVisual field defectsIntellectual disability
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
4 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2/3Sirolimus (Fyarro)
Phase 2Cannabidiol (Epidiolex)
Phase 2Everolimus (Afinitor)
Phase 1Timolol (Betim)
Before you apply
Things trial teams commonly ask about for Sturge-Weber Syndrome. Not eligibility rules; those are set by each study.
- Brain MRI with gadolinium contrast demonstrating leptomeningeal enhancement is required for neurological SWS diagnosis
- Seizure onset age and frequency are key baseline measures — prophylactic aspirin use should be documented
- Sirolimus and other mTOR/MEK pathway inhibitor trials are emerging — document prior targeted therapy use
- Port-wine birthmark distribution (ophthalmic V1 vs. maxillary V2 dermatomes) and glaucoma status affect trial stratification
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).