Innovative Approaches to Gauge Progression of Sturge Weber Syndrome (SWS)

This study is one of several projects of the Brain Vascular Malformation, a NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations. The study has three aims:

Aim 1: Determine the vascular remodeling of the SWS birthmark and choroidal angioma as it relates to neurologic status and urine vascular factors

Aim 2: Study vascular remodeling with neuroimaging to determine the vascular remodeling of the deep draining intraparenchymal vessels as it relates to SWS neurologic status

Aim 3: Relate the GNAQ mutation to altered phosphorylation of pathway proteins and angiogenesis factors in SWS tissue

Boston Children's Hospital will be participating in Aim 1, as we hope to further develop urine, dermatologic, neurologic, and quality of life biomarkers and scales to improve the understanding and treatment of SWS. There are no age restrictions for enrollment, and eligible patients must have a diagnosis of SWS with brain involvement. Study visits will occur annually and participants will be followed for 3 years. Participants will be asked to provide a urine sample, have their birthmark scored and photographed, and to partake in a NeuroQOL questionnaire.

For more information, or if you would like to participate in the study, please contact Mia Diplock at 617-919-1476 or