Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01425944

Enrollment

600

Registered

2011-08-30

Start date

2010-09-01

Completion date

2027-02-09

Last updated

2026-03-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Sturge-Weber Syndrome

Keywords

Sturge Weber Syndrome, Biomarkers, DNA arrays, brain vessel malformations

Brief summary

This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.

Detailed description

This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome. We plan to improve the future understanding and treatment of Sturge-Weber Syndrome by 1) establishing a national consortium database which will gather lager amounts of clinical data and serve indirectly as a registry to foster future clinical trials and determine the usefulness of urine vascular biomarkers to determine the vascular remodeling of the SWS birthmark and choroidal angioma, 2) study vascular remodeling with retrospective and prospective neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status, and 3) relate the GNAQ mutation to altered phosphorylation of pathway proteins and angiogenesis factors in SWS tissue.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

1 Months to No maximum

Healthy volunteers

Yes

Inclusion criteria

For Aim 1: For main sample: * Sturge-Weber syndrome * Diagnosed brain Involvement For Control: * Family member of participating SWS patient For OCT: * Sturge-Weber syndrome eye involvement For Aim 2: * Sturge-Weber syndrome * Diagnosed Brain Involvement For Aim 3: * Sturge-Weber syndrome * Diagnosed brain Involvement * Port-Wine Stain in V1 and/or V2 areas of face.

Exclusion criteria

* Not Diagnosed with Sturge-Weber syndrome with brain Involvement (or eye involvement for OCT) For Aim 1: * Family member must not have certain medical conditions. A list will be provided before consent is given. For Aim 3: * Not Diagnosed with Sturge-Weber syndrome with brain Involvement * No Port-Wine Stain

Design outcomes

Primary

Measure	Time frame	Description
Aim 3	All 5 years	Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins
Aim 1	All 5 years	Descriptive statistics for the national database, correlation between neurologic score and urine angiogenesis factor, and correlation between PWS (port-wine stain) attributes, urine vascular factors, and neuroscore
Aim 2	All 5 years	Correlation between neuroscore and degree of collateral venous vessel opening

Countries

United States

Contacts

PRINCIPAL_INVESTIGATORAnne M Comi, M.D.

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

Outcome results