Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

Recruiting

Phase N/A Results N/A

Update History

13 Sep '17
The gender criteria for eligibility was updated to "All."
The eligibility criteria were updated.
New
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
Old
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
A location was updated in Houston.
New
The overall status was updated to "Completed" at Baylor College of Medicine/Texas Children's Hospital.
15 Oct '15
The description was updated.
New
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.
Old
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, 2) determine the usefulness of urine vascular biomarkers, and 3) try to identify the hypothesized somatic mutation possibly causing SWS using DNA arrays.
The eligibility criteria were updated.
New
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
Old
Inclusion Criteria: For Aim 1: - Sturge-Weber Syndrome - Diagnosed Brain Involvement For Aim 2: For main sample: - Sturge-Weber Syndrome - Diagnosed Brain Involvement For Control: - Family member of participating SWS patient 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 For Aim 2: - Family member must not have certain medical conditions. A list will be provided before consent is given. For Aim 3: - No Port-Wine Stain
10 Sep '14
The Summary of Purpose was updated.
New
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.
Old
This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome and improve clinical care of Sturge-Weber Syndrome patients.