Longitudinal Neuroimaging in Sturge-Weber Syndrome

NCT04517565 | Active Not Recruiting FDA Device

• 1 other identifier: Sturge-Weber neuroimaging
• Study Type: interventional
• Target: 80
• Locations: 1 country
• Sites: 1

Brief Summary

In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create multiple types of MR images in about 5 minutes, without contrast administration (and sedation even in young children), can be also readily applied in other pediatric brain disorders in the future. The investigators will also study how advanced MRI, including susceptibility-weighted and diffusion tensor imaging can detect detailed signs of brain vascular and neuronal reorganization that helps improve neurological and cognitive outcome of children and young adults with SWS, who could benefit from targeted interventions in the future to minimize neurocognitive deficits in affected patients. All enrolled subjects will undergo advanced brain MRI and neurocognitive evaluation to achieve these goals.

Conditions

Sturge-Weber Syndrome

Outcome Measures

Primary Outcomes (4)

• Accuracy of detection of Sturge-Weber syndrome brain involvement by a novel fast magnetic resonance imaging (MRI) approach as compared to standard MRI.

  Presence (score 1) vs. absence (score 0) of SWS brain abnormalities in each of 8 cerebral lobes using fast MRI compared with the same scores obtained from standard MRI, obtained in the same imaging session, as the ground truth.

  During procedure

• Correlation of enlarged cerebral deep vein scores, measured by magnetic resonance imaging (MRI), with full scale IQ acquired within 1 day.

  Full scale IQ (normal mean: 100, standard deviation: 15) will be determined and its correlation with enlarged deep vein scores (range: 0-12, 0 indicating no enlarged deep veins, 12 indicating the most extensive enlarged deep veins) measured by MRI calculated.

  1 day

• Correlation of diffusion tensor imaging (DTI) brain connectivity score with verbal IQ acquired within 1 day.

  Verbal IQ (normal mean: 100, standard deviation: 15) will be determined by neuropsychology evaluation and correlated with DTI brain connectivity scores (range: 0-1, 0 indicating no connectivity, 1 indicating the strongest connectivity) measured by MRI.

  1 day

• Correlation of diffusion tensor imaging (DTI) brain connectivity score with non-verbal IQ acquired within 1 day.

  Non-verbal IQ (normal mean: 100, standard deviation: 15) will be determined by neuropsychology evaluation and correlated with DTI brain connectivity scores (range: 0-1, 0 indicating no connectivity, 1 indicating the strongest connectivity) measured by MRI.

  1 day

Secondary Outcomes (1)

• Correlation of enlarged deep vein scores determined by magnetic resonance imaging (MRI) with motor scores acquired within 1 day.

  1 day

Study Arms (1)

Patients with SWS or high-risk facial port-wine birthmark

EXPERIMENTAL

All patients with SWS brain involvement (based on previous imaging) or facial port-wine birthmark indicating a high risk for SWS brain involvement will undergo a brain MRI and neuro-psychology testing.

Diagnostic Test: Brain magnetic resonance imaging; Behavioral: Neuro-psychology testing

Interventions

Brain magnetic resonance imaging DIAGNOSTIC_TEST

Brain magnetic resonance imaging (MRI) will be done using multiple sequences to evaluate presence, type and severity of brain abnormalities in enrolled subjects.

Also known as: MRI

Patients with SWS or high-risk facial port-wine birthmark

Neuro-psychology testing BEHAVIORAL

Participants will undergo age-appropriate neuro-psychology testing to assess motor, language and other neuro-cognitive functions potentially affected by Sturge-Weber syndrome.

Also known as: neuro-cognitive testing, neuro-psychology

Patients with SWS or high-risk facial port-wine birthmark

Eligibility Criteria

• Age: 3 Months - 30 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Subjects with Sturge-Weber syndrome (SWS):
• Age 3 months - 30 years;
• Presence of a facial port-wine birthmark (PWB) indicating a risk for SWS and/or evidence of SWS brain involvement based on the presence of one or more intracranial SWS brain abnormalities from previous clinical imaging (MRI or computed tomography) scan(s) with or without a facial PWB. SWS brain abnormalities can include both brain vascular and/or parenchymal abnormalities (including atrophy, calcification, etc.);
• In children who will undergo formal neuropsychology testing including detailed language testing (age 3 years and above): proficiency of English language.
• Healthy control subjects:
• Age 3 years - 30 years;
• No history of neurological or psychiatric disorder

You may not qualify if:

• For all subjects:
• Metal in the head or mouth that would preclude safe, artifact-free MRI scanning; or any other metal or electronic device contraindicated for MRI scanning.
• History of severe claustrophobia, precluding staying still in the scanner for up to 30 minutes.
• Pregnancy (pregnant women will be scheduled for the study after delivery).
• History of sensitivity to MRI contrast material;
• History of renal disease that would preclude safe administration of MRI contrast material

Sponsors & Collaborators

• Wayne State University: lead
• National Institutes of Health (NIH): collaborator

Study Sites (1)

Wayne State University / Children's Hospital of Michigan

Detroit, Michigan, 48201, United States

Location

MeSH Terms

Conditions

Sturge-Weber Syndrome

Condition Hierarchy (Ancestors)

Hemangioma; Neoplasms, Vascular Tissue; Neoplasms by Histologic Type; Neoplasms; Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: August 7, 2020
• First Posted: August 18, 2020
• Study Start: March 1, 2020
• Primary Completion: February 28, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: April 13, 2026

Record last verified: 2026-04

Locations

US (1)