Innovative Approaches to Gauge Progression of Sturge-Webe... | NCT01425944

Studies
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

NCT01425944

Sponsor

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

Status

Active, not recruiting

Last Update Posted

Mar 2, 2026Actual

Enrollment

600Estimated

Phase

Not provided

Conditions

Sturge-Weber Syndrome

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
U54NS065705-02	U.S. NIH Grant/Contract		View source
BVMC6202	Other Identifier	Rare Diseases Clinical Research Network
BVMC6208	Other Identifier	Rare Diseases Clinical Research Network

Status Module

Record Verification Date

Feb 2026

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 2010Actual

Primary Completion Date

Dec 2025Actual

Completion Date

Feb 9, 2027Estimated

First Submitted Date

Aug 29, 2011

First Submission Date that Met QC Criteria

Aug 29, 2011

First Posted Date

Aug 30, 2011Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 26, 2026

Last Update Posted Date

Mar 2, 2026Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Anne Comi, MD, Principal Investigator, Director Sturge-Weber Center, Kennedy Krieger Institute, Professor Johns Hopkins University School of Medicine, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.Principal Investigator

Lead Sponsor

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

Collaborators

Name	Class
National Institutes of Health (NIH)	NIH
University of California, San Francisco	OTHER
National Institute of Neurological Disorders and Stroke (NINDS)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

600Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Aim 1	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	All 5 years
Aim 2	Correlation between neuroscore and degree of collateral venous vessel opening	All 5 years
Aim 3	Correlation between GNAQ mutation status and hyperphosphorylation in downstream proteins	All 5 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

1 Month

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

For Aim 1, the population will be subjects with Sturge-Weber Syndrome and diagnosed brain involvement. There will be a separate group made up of family members of those with Sturge-Weber syndrome brain involvement to have as a control for the urine portion of Aim 1. For the optical coherence tomography (OCT) portion of Aim 1, the population will be subjects with Sturge-Weber Syndrome eye involvement. For Aim 2, the population will be subjects that have Sturge-Weber Syndrome with brain involvement. For Aim 3, the population will be subjects with Sturge-Weber Syndrome, diagnosed brain involvement, and V1 distribution Port-Wine Stain.

Sampling Method

Non-Probability Sample

Facility	Status	City	State	ZIP	Country	Contacts
Kennedy Krieger Institute		Baltimore	Maryland	21205	United States
Wayne State University/Children's Hospital of Michigan

ID	Term
D006391	Hemangioma
D009383	Neoplasms, Vascular Tissue
D009370	Neoplasms by Histologic Type
D009369	Neoplasms