Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome



Status:Recruiting
Healthy:No
Age Range:Any
Updated:1/10/2019
Start Date:September 2010
End Date:July 2020
Contact:Kelly A Harmon, B.S.
Email:harmon@kennedykrieger.org
Phone:443-923-9127

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The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome

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.

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
We found this trial at
7
sites
Houston, Texas
Principal Investigator: Angus Wilfong
Phone: 832-822-1258
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707 North Broadway
Baltimore, Maryland 21205
443-923-9200
Principal Investigator: Anne M Comi, M.D.
Phone: 443-923-9127
Kennedy Krieger Institute While not officially part of Johns Hopkins Medicine, Kennedy Krieger Institute is...
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700 Childrens Drive
Columbus, Ohio 43205
(616) 722-2000
Principal Investigator: Warren Lo, MD
Phone: 617-722-4625
Nationwide Children's Hospital At Nationwide Children’s, we are creating the future of pediatric health care....
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Cincinnati, Ohio 45229
Principal Investigator: Adrienne Hammill, MD, PhD
Phone: 513-803-9255
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Detroit, Michigan 48201
Principal Investigator: Csaba Juhasz, MD
Phone: 313-993-3848
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70 Washington Square S
New York, New York 10012
(212) 998-1212
Principal Investigator: Daniel Miles, MD
Phone: 646-558-0803
New York University More than 175 years ago, Albert Gallatin, the distinguished statesman who served...
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Philadelphia, Pennsylvania 19107
Principal Investigator: Alex Levin, MD
Phone: 215-928-3418
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