NCT01425944

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
600

participants targeted

Target at P75+ for all trials

Timeline
9mo left

Started Sep 2010

Longer than P75 for all trials

Geographic Reach
1 country

7 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress95%
Sep 2010Feb 2027

Study Start

First participant enrolled

September 1, 2010

Completed
12 months until next milestone

First Submitted

Initial submission to the registry

August 29, 2011

Completed
1 day until next milestone

First Posted

Study publicly available on registry

August 30, 2011

Completed
14.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2025

Completed
1.2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

February 9, 2027

Expected
Last Updated

March 2, 2026

Status Verified

February 1, 2026

Enrollment Period

15.3 years

First QC Date

August 29, 2011

Last Update Submit

February 26, 2026

Conditions

Sturge-Weber Syndrome

Keywords

Sturge Weber SyndromeBiomarkersDNA arraysbrain vessel malformations

Outcome Measures

Primary Outcomes (3)

  • 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

Eligibility Criteria

Age1 Month+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
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.

You may qualify if:

  • 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.

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (7)

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

Location

Wayne State University/Children's Hospital of Michigan

Detroit, Michigan, 48201, United States

Location

New York University

New York, New York, 10016, United States

Location

Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Wills Eye Institute

Philadelphia, Pennsylvania, 19107, United States

Location

Baylor College of Medicine/Texas Children's Hospital

Houston, Texas, 77030, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Aim 1 retains data and samples without DNA. Aim 2 retains data without DNA. Aim 3 retains anonymous data with DNA.

MeSH Terms

Conditions

Sturge-Weber Syndrome

Condition Hierarchy (Ancestors)

HemangiomaNeoplasms, Vascular TissueNeoplasms by Histologic TypeNeoplasmsNeurocutaneous SyndromesNervous System DiseasesAngiomatosisVascular DiseasesCardiovascular Diseases

Study Officials

  • Anne M Comi, M.D.

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

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator, Director Sturge-Weber Center, Kennedy Krieger Institute, Professor Johns Hopkins University School of Medicine

Study Record Dates

First Submitted

August 29, 2011

First Posted

August 30, 2011

Study Start

September 1, 2010

Primary Completion

December 1, 2025

Study Completion (Estimated)

February 9, 2027

Last Updated

March 2, 2026

Record last verified: 2026-02

Locations

US(7)