Biomarker Development in Sturge-Weber Syndrome | NCT01345305

Studies
Biomarker Development in Sturge-Weber Syndrome

NCT01345305

Sponsor

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

Status

Completed

Last Update Posted

Apr 16, 2020Actual

Enrollment

40Actual

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
BVMC6204	Other Identifier	Rare Diseases Clinical Research Network
U54NS065705-02	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Apr 2020

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jul 2010

Primary Completion Date

Nov 2012Actual

Completion Date

Nov 2012Actual

First Submitted Date

Apr 28, 2011

First Submission Date that Met QC Criteria

Apr 28, 2011

First Posted Date

May 2, 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

Apr 15, 2020

Last Update Posted Date

Apr 16, 2020Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Anne Comi, MD, Associate Professor, Neurology and Developmental Medicine, Kennedy Krieger Institute, Johns Hopkins University, 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 is a study of 40 individuals with Sturge-Weber Syndrome (SWS) brain and/or eye involvement. It will examine the test-retest reliability of the following clinical tests:

Quantitative EEG
Transcranial Doppler
Medical Rehabilitation Scales
Optical Coherence Tomography

Detailed Description

Sturge-Weber Syndrome (SWS) is a rare disorder presenting at birth with a facial port-wine birthmark and later in infancy with seizures and strokes that result in weakness on one side of the body, cognitive disabilities, glaucoma, and visual field deficits. Approximately 10-50% of infants born with a facial port-wine birthmark on the upper part of the face will also have SWS brain and/or eye involvement. Early detection and treatment of the disease is necessary to improve an SWS patient's outcome, and early biological indicators need to be discovered to make this possible. We believe the following tests can serve as non-invasive biomarkers to improve early diagnosis, monitor response to treatment, and to predict outcome:

Quantitative EEG
Transcranial Doppler
Medical Rehabilitation Scales
Optical Coherence Tomography The first step of this process is to determine how much the results of these tests vary between individual tests.

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

No data available

No data is available for this block.

Enrollment

40Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Primary outcome	Our primary aim is to demonstrate correlation between progression of clinical symptoms and evolution of the vascular malformation involving the brain, skin, and the eye.	2 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Individuals with SWS and brain involvement (Aims 1-3): for the purposes of this study SWS brain involvement is defined as having shown on MRI imaging evidence of the typical vascular malformation which includes the following: leptomeningeal angioma, choroid plexus glomus, and associated venous angioma/malformation.
Individuals with SWS and eye involvement (Aim 4): for the purposes of this study SWS eye involvement is defined as individuals with a port-wine birthmark in the V1 dermatomal distribution
Able (or parents able) to provide informed consent
Able to cooperate with tests
Age 6 months to 21 years (Aims 1-3 only)

Exclusion Criteria:

Subjects unable to cooperate with the studies will be excluded.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

6 Months

Maximum Age

21 Years

Standard Ages

ChildAdult

Study Population

Individuals with SWS and brain involvement (Aims 1-3): for the purposes of this study SWS brain involvement is defined as having shown on MRI imaging evidence of the typical vascular malformation which includes the following: leptomeningeal angioma, choroid plexus glomus, and associated venous angioma/malformation.
Individuals with SWS and eye involvement (Aim 4): for the purposes of this study SWS eye involvement is defined as individuals with a portwine birthmark in the V1 dermatomal distribution
Able (or parents able) to provide informed consent
Able to cooperate with tests
Age 6 months to 21 years (Aims 1-3 only)

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Anne M Comi, M.D.	Hunter Nelson Sturge-Weber Center	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute		Baltimore	Maryland	21205	United States

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