Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

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.

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