Sturge-Weber SyndromeNCT04517565
Longitudinal Neuroimaging in Sturge-Weber Syndrome
A study testing Brain magnetic resonance imaging and Neuro-psychology testing in people with Sturge-Weber Syndrome, run by Wayne State University at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 3 months to 30 yearsHealthy volunteers can take part
- Conditions the study is for
- Sturge-Weber Syndrome
- What is being tested?
- Brain magnetic resonance imaging and Neuro-psychology testing
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 80 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Mar 2020to 30 Jun 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months to 30 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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).
- For SWS subjects, who will receive MRI contrast material, additional exclusion criteria:
- History of sensitivity to MRI contrast material;
- History of renal disease that would preclude safe administration of MRI contrast material
Trial locations and contacts
1 site in 1 country.
United States1 site
Wayne State University / Children's Hospital of Michigan
Detroit, Michigan, 48201
About this study
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.
Read the detailed description
This project will combine advanced neuroimaging with detailed neuro-psychology evaluation, performed in both children and young adults affected by Sturge-Weber syndrome, in order to address two main aims, each of them with two research hypotheses:
AIM 1. To determine the accuracy of a novel, rapid MRI approach for detection of early and advanced SWS brain abnormalities as compared to a standard MRI acquisition (current clinical standard).
Hypothesis 1.1. In young children with SWS, rapid MRI using STAGE will detect the presence and extent of brain involvement with high accuracy when compared to standard MRI.
Hypothesis 1.2. In children, adolescents, and young adults, rapid MRI using STAGE will have high accuracy to detect advanced brain vascular and parenchymal abnormalities as compared to standard MRI.
Since the detrimental neurocognitive effects of SWS brain involvement are most robust during the early disease course, early interventions, including preventive antiepileptic treatment in children with high-risk port-wine birthmark are being considered. This paradigm changing therapeutic approach would greatly benefit from safe, accurate imaging for rapid screening not requiring sedation or contrast injection. In this aim, the investigators will evaluate a recently developed, rapid, multi-echo MRI acquisition protocol (STAGE: Strategically Acquired Gradient Echo) for its ability to detect early and late SWS-related vascular and brain tissue abnormalities.
AIM 2. To assess the role of key vascular and neuronal compensatory mechanisms in neurocognitive outcome in unilateral SWS.
Hypothesis 2.1. Extensive ipsilateral deep vein collaterals will protect the SWS-affected hemisphere as indicated by relatively preserved structural brain integrity and global neurocognitive functions.
Hypothesis 2.2. In unilateral SWS, reorganized structural networks in the contralateral cerebral hemisphere will predict alterations in specific cognitive, motor, language, and executive functions.
Recent studies revealed two, potentially powerful compensatory mechanisms that may offset the effects of SWS-related brain injury in unilateral SWS: (i) expanding ipsilateral deep venous collaterals, and (ii) contralateral brain reorganization associated with preserved verbal functions at the cost of non-verbal abilities ("crowding" effect) in left-hemispheric SWS. Here the investigators will use advanced MRI techniques (such as susceptibility-weighted and diffusion tensor imaging (DTI)-based connectome analysis) to evaluate the long-term global and specific neurocognitive effects of venous vascular remodeling and structural reorganization, respectively.
- Conditions
- Sturge-Weber Syndrome
- Being tested
- Brain magnetic resonance imaging, Neuro-psychology testing
- Medical subject headings
- Sturge-Weber Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Brain magnetic resonance imagingDiagnostic test
Also called MRI
Brain magnetic resonance imaging (MRI) will be done using multiple sequences to evaluate presence, type and severity of brain abnormalities in enrolled subjects.
Neuro-psychology testingBehavioural
Also called neuro-cognitive testing, neuro-psychology
Participants will undergo age-appropriate neuro-psychology testing to assess motor, language and other neuro-cognitive functions potentially affected by Sturge-Weber syndrome.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Diagnostic Test: Brain magnetic resonance imaging; Behavioral: Neuro-psychology testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 1 day
Secondary outcomes (1)
Correlation of enlarged deep vein scores determined by magnetic resonance imaging (MRI) with motor scores acquired within 1 day.
Motor scores (normal mean: 100, standard deviation: 15), determined during neuro-psychology evaluation, will be correlated with enlarged deep vein scores (range: 0-12, 0 indicating no enlarged deep veins, 12 indicating the most extensive enlarged deep veins) determined by MRI.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Aug 2020
- Study start1 Mar 2020
- Primary completion28 Feb 2026
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sturge-Weber SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Wayne State University
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH)
- Responsible party
- Principal investigator, Csaba Juhasz, Wayne State University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04517565
- Sponsor's protocol ID
- Sturge-Weber neuroimaging
- Status last verified
- Aug 2026
- First submitted
- 7 Aug 2020
- Last updated
- 19 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Neuroimaging in Sturge-Weber Syndrome
- ClinicalTrials.gov ID
- NCT04517565
- Acronym / sponsor ID
- Sturge-Weber neuroimaging
- Conditions
- Sturge-Weber Syndrome
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Wayne State UniversityUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH)
- Study start
- 1 Mar 2020 (actual)
- Primary completion
- 28 Feb 2026 (actual)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 18 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This project will combine advanced neuroimaging with detailed neuro-psychology evaluation, performed in both children and young adults affected by Sturge-Weber syndrome, in order to address two main aims, each of them with two research hypotheses:
AIM 1. To determine the accuracy of a novel, rapid MRI approach for detection of early and advanced SWS brain abnormalities as compared to a standard MRI acquisition (current clinical standard).
Hypothesis 1.1. In young children with SWS, rapid MRI using STAGE will detect the presence and extent of brain involvement with high accuracy when compared to standard MRI.
Hypothesis 1.2. In children, adolescents, and young adults, rapid MRI using STAGE will have high accuracy to detect advanced brain vascular and parenchymal abnormalities as compared to standard MRI.
Since the detrimental neurocognitive effects of SWS brain involvement are most robust during the early disease course, early interventions, including preventive antiepileptic treatment in children with high-risk port-wine birthmark are being considered. This paradigm changing therapeutic approach would greatly benefit from safe, accurate imaging for rapid screening not requiring sedation or contrast injection. In this aim, the investigators will evaluate a recently developed, rapid, multi-echo MRI acquisition protocol (STAGE: Strategically Acquired Gradient Echo) for its ability to detect early and late SWS-related vascular and brain tissue abnormalities.
AIM 2. To assess the role of key vascular and neuronal compensatory mechanisms in neurocognitive outcome in unilateral SWS.
Hypothesis 2.1. Extensive ipsilateral deep vein collaterals will protect the SWS-affected hemisphere as indicated by relatively preserved structural brain integrity and global neurocognitive functions.
Hypothesis 2.2. In unilateral SWS, reorganized structural networks in the contralateral cerebral hemisphere will predict alterations in specific cognitive, motor, language, and executive functions.
Recent studies revealed two, potentially powerful compensatory mechanisms that may offset the effects of SWS-related brain injury in unilateral SWS: (i) expanding ipsilateral deep venous collaterals, and (ii) contralateral brain reorganization associated with preserved verbal functions at the cost of non-verbal abilities ("crowding" effect) in left-hemispheric SWS. Here the investigators will use advanced MRI techniques (such as susceptibility-weighted and diffusion tensor imaging (DTI)-based connectome analysis) to evaluate the long-term global and specific neurocognitive effects of venous vascular remodeling and structural reorganization, respectively.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with SWS or high-risk facial port-wine birthmark | Experimental | Diagnostic Test: Brain magnetic resonance imaging, Behavioral: Neuro-psychology testingAll 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. |
Who may qualify
- Ages
- 3 months to 30 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- Subjects with Sturge-Weber syndrome (SWS):
- Healthy control subjects:
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Brain magnetic resonance imagingAlso: MRIBrain magnetic resonance imaging (MRI) will be done using multiple sequences to evaluate presence, type and severity of brain abnormalities in enrolled subjects. | Diagnostic test | Patients with SWS or high-risk facial port-wine birthmark |
| Neuro-psychology testingAlso: neuro-cognitive testing, neuro-psychologyParticipants will undergo age-appropriate neuro-psychology testing to assess motor, language and other neuro-cognitive functions potentially affected by Sturge-Weber syndrome. | Behavioural | Patients with SWS or high-risk facial port-wine birthmark |
Primary outcome
Accuracy of detection of Sturge-Weber syndrome brain involvement by a novel fast magnetic resonance imaging (MRI) approach as compared to standard MRI.
Time frame: During procedure
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.
Correlation of enlarged cerebral deep vein scores, measured by magnetic resonance imaging (MRI), with full scale IQ acquired within 1 day.
Time frame: 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.
Correlation of diffusion tensor imaging (DTI) brain connectivity score with verbal IQ acquired within 1 day.
Time frame: 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.
Correlation of diffusion tensor imaging (DTI) brain connectivity score with non-verbal IQ acquired within 1 day.
Time frame: 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 secondary outcome
Correlation of enlarged deep vein scores determined by magnetic resonance imaging (MRI) with motor scores acquired within 1 day.
Time frame: 1 day
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Brain magnetic resonance imaging and Neuro-psychology testing in people with Sturge-Weber Syndrome, run by Wayne State University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 19 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Accuracy of detection of Sturge-Weber syndrome brain involvement by a novel fast magnetic resonance imaging (MRI) approach as compared to standard MRI. (time frame: During procedure). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Aug 2026.