Neuroimaging for Sturge-Weber Syndrome

Overseen By Csaba Juhasz, MD, PhD

Age: < 65

Sex: Any

Trial Phase: Academic

Sponsor: Wayne State University

Disqualifiers: Metal implants, Claustrophobia, Pregnancy, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Approved in 6 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: 1

80 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new, quick MRI technique to detect brain issues in individuals with Sturge-Weber syndrome (SWS), a condition that can cause seizures and developmental problems. The goal is to determine if this rapid imaging method can identify brain changes that may lead to better treatments, particularly for children and young adults. Individuals with SWS or a facial port-wine birthmark, which might indicate brain involvement, could be suitable for this study. Participants will undergo advanced brain imaging (Brain Magnetic Resonance Imaging) and cognitive testing to help researchers better understand the condition. As an unphased study, this trial offers a unique opportunity to contribute to groundbreaking research that could enhance future treatment options.

Do I need to stop my current medications for the trial?

The trial protocol does not specify whether you need to stop taking your current medications.

What prior data suggests that this MRI approach is safe for detecting brain abnormalities in patients with Sturge-Weber syndrome?

Research has shown that the new MRI method for Sturge-Weber syndrome (SWS) is likely safe. MRI commonly captures brain images using magnets and radio waves.

In this study, the MRI is quicker and does not require contrast agents or sedation, which is beneficial for young children as it avoids the risks associated with those procedures. No specific safety issues have been reported for this MRI method in SWS patients.

The trial also includes neuropsychology testing to evaluate brain function. This testing is safe and involves simple activities and questions to assess memory, problem-solving, and other cognitive functions.

Overall, using MRI and neuropsychology testing in this trial appears safe for participants, with no reported problems specific to these procedures. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about using brain magnetic resonance imaging (MRI) for Sturge-Weber Syndrome (SWS) because it offers a non-invasive way to gain detailed insights into the brain's structure and function in affected individuals. Unlike standard treatments that primarily focus on managing symptoms, such as seizures or glaucoma, this imaging technique aims to enhance our understanding of the neurological impact of SWS. By providing clear images of the brain, MRI can help identify early signs of brain involvement in patients with high-risk port-wine birthmarks, potentially leading to earlier and more targeted interventions.

What evidence suggests that this MRI approach is effective for detecting brain abnormalities in Sturge-Weber Syndrome?

Research has shown that a new, faster MRI method can accurately detect brain involvement in Sturge-Weber syndrome (SWS) compared to the standard MRI. One study found that this method provides clear images without the need for contrast dye, making it safer and quicker, especially for children. Another study discovered that this advanced imaging technique can identify small brain changes that help predict future neurological problems. In this trial, all patients with SWS brain involvement or a high-risk facial port-wine birthmark will undergo this new MRI method and neuro-psychology testing. These findings suggest the new MRI method might lead to earlier and more accurate diagnosis of SWS, potentially allowing for better treatment planning to improve cognitive outcomes in children. ^{1 3 5 6 7}

Are You a Good Fit for This Trial?

This trial is for individuals aged 3 months to 30 years with Sturge-Weber syndrome (SWS) or at risk due to a facial port-wine birthmark. Healthy controls without neurological/psychiatric disorders can also join. Exclusions include metal in the body, pregnancy, MRI contrast sensitivity, renal disease, and severe claustrophobia.

Inclusion Criteria

I am between 3 and 30 years old and healthy.

You have a specific type of birthmark on your face, or evidence of a related brain condition.

I have no history of mental health or neurological conditions.

Exclusion Criteria

I am not currently pregnant.

I do not have kidney disease that would make MRI contrast unsafe.

For SWS subjects who will receive MRI contrast material: History of sensitivity to MRI contrast material

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Neuroimaging and Evaluation

Participants undergo advanced brain MRI and neurocognitive evaluation to assess brain abnormalities and neurocognitive outcomes

1 day

1 visit (in-person)

Follow-up

Participants are monitored for safety and effectiveness after neuroimaging and evaluation

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Brain Magnetic Resonance Imaging
• Neuro-psychology Testing

Trial Overview The study tests a new rapid MRI technique that captures multiple images quickly without contrast agents and sedation. It aims to identify brain abnormalities in SWS patients and understand vascular/neuronal changes that could inform future interventions.

How Is the Trial Designed?

Group I: Patients with SWS or high-risk facial port-wine birthmark Experimental Treatment 2 Interventions

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.

Brain Magnetic Resonance Imaging is already approved in European Union, United States, Canada, Japan, China, Switzerland for the following indications:

Approved in European Union as MRI for:

• Diagnostic imaging for various conditions including epilepsy

Approved in United States as MRI for:

• Diagnostic imaging for various conditions including epilepsy

Approved in Canada as MRI for:

• Diagnostic imaging for various conditions including epilepsy

Approved in Japan as MRI for:

• Diagnostic imaging for various conditions including epilepsy

Approved in China as MRI for:

• Diagnostic imaging for various conditions including epilepsy

Approved in Switzerland as MRI for:

• Diagnostic imaging for various conditions including epilepsy

Who Is Running the Clinical Trial?

Wayne State University

Lead Sponsor

Trials

318

Recruited

111,000+

National Institutes of Health (NIH)

Collaborator

Trials

2,896

Recruited

8,053,000+

Published Research Related to This Trial

In a study of seven patients with Sturge-Weber syndrome, contrast-enhanced MR imaging using Gd-DTPA was crucial for diagnosing the condition, revealing significant abnormalities that were not visible on unenhanced MR or CT scans.

The most consistent finding across patients was pial angiomatosis, which, along with adjacent cerebral atrophy, is considered the key radiographic feature for diagnosing Sturge-Weber syndrome.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. Benedikt, RA., Brown, DC., Walker, R., et al.[2021]

Early magnetic resonance imaging (MRI) can accurately diagnose Sturge-Weber syndrome (SWS) in asymptomatic infants with a facial port-wine birthmark, achieving a sensitivity of 100% and specificity of 94% based on the presence of specific imaging markers.

Identifying SWS early through MRI allows for timely neuroprotective interventions, potentially improving outcomes for affected infants.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. Bar, C., Pedespan, JM., Boccara, O., et al.[2020]

Infratentorial involvement in children with Sturge-Weber syndrome (SWS) is more common than previously recognized, occurring in 40% of the studied patients, with lesions including cerebellar atrophy and developmental venous anomalies.

Analysis of apparent diffusion coefficient (ADC) values in normal appearing white matter (NAWM) indicates impaired white matter maturation, which may contribute to neurocognitive deficits in SWS patients, suggesting that ADC analysis could be a useful biomarker for assessing tissue injury and guiding treatment.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

MRI with diffusion-weighted imaging in children and young adults with simultaneous supra- and infratentorial manifestations of Sturge-Weber syndrome. Arulrajah, S., Ertan, G., M Comi, A., et al.[2019]

Magnetic resonance angiography (MRA) is effective in identifying vascular anomalies associated with Sturge-Weber syndrome, as demonstrated in a study of four pediatric patients.

Venous MRA specifically revealed significant findings such as reduced flow in the transverse sinuses and jugular veins, which can aid in the diagnosis and understanding of cerebral vascular changes in affected individuals.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

MR and MR angiography of Sturge-Weber syndrome. Vogl, TJ., Stemmler, J., Bergman, C., et al.[2021]

Magnetic resonance perfusion imaging is an effective tool for detecting perfusion abnormalities in pediatric patients with Sturge-Weber syndrome, as demonstrated in a study of 7 children.

The study found that perfusion abnormalities often correlated with meningeal enhancement and were consistently located near developmental venous anomalies, highlighting the utility of this imaging technique in assessing the disease's extent.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cerebral perfusion abnormalities in children with Sturge-Weber syndrome shown by dynamic contrast bolus magnetic resonance perfusion imaging. Evans, AL., Widjaja, E., Connolly, DJ., et al.[2015]

MRI scans of two infants with Sturge-Weber syndrome revealed accelerated myelination in the affected hemisphere, particularly visible on T1-weighted images.

The observed changes in myelination and brain hydration may be linked to cerebral ischemia caused by the presence of leptomeningeal angioma, suggesting a potential mechanism for these MRI findings.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Accelerated myelination in early Sturge-Weber syndrome demonstrated by MR imaging. Jacoby, CG., Yuh, WT., Afifi, AK., et al.[2019]

Susceptibility weighted imaging (SWI) was found to be more effective than standard T1 weighted postgadolinium contrast MRI (T1-Gd) in identifying key abnormalities in children with Sturge-Weber Syndrome, including enlarged transmedullary veins and cortical gyriform abnormalities, based on a study of 12 children.

While SWI excelled in detecting certain vascular and cortical changes, T1-Gd was better at identifying enlarged choroid plexus and leptomeningeal abnormalities, suggesting that both imaging techniques provide complementary information and should be used together in clinical assessments.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

MR susceptibility weighted imaging (SWI) complements conventional contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber Syndrome. Hu, J., Yu, Y., Juhasz, C., et al.[2021]

In a study of 55 patients with Sturge-Weber syndrome (SWS) over 40 years, epilepsy was the most common and severe feature, affecting 85.5% of patients, with only 42.5% achieving complete seizure control, often requiring surgical intervention.

The study highlighted that while early surgical treatment can help control seizures, other neurological issues like hemiparesis and intellectual deficits showed less improvement, indicating a need for comprehensive care to enhance the quality of life for SWS patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Sturge-Weber syndrome: study of 55 patients. Pascual-Castroviejo, I., Pascual-Pascual, SI., Velazquez-Fragua, R., et al.[2019]

Magnetic Resonance Spectroscopic Imaging (MRSI) is more effective than conventional MRI in detecting frontal lobe abnormalities in children with Sturge-Weber syndrome (SWS), revealing issues even when frontal lobes appear normal on standard scans.

Lower levels of N-acetyl-aspartate (NAA) in the frontal lobe are strongly linked to earlier seizure onset and poorer motor function, making MRSI a valuable tool for predicting motor outcomes in these patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Magnetic resonance spectroscopic imaging detects abnormalities in normal-appearing frontal lobe of patients with Sturge-Weber syndrome. Batista, CE., Chugani, HT., Hu, J., et al.[2018]

Citations

1. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/26706049/

Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging ... Brain MRIs were reviewed in five patients. Histopathologic examination revealed varied degrees of cortical morphologic anomaly in seven of 11 patients. Overall, ...

2. clinicaltrials.gov clinicaltrials.gov/study/NCT04517565

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

3. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/10.1111/dmcn.14253

Early magnetic resonance imaging to detect ... We showed that early diagnosis of SWS is possible on a contrast-enhanced MRI performed in asymptomatic neonates with facial PWB through reliable radiological ...

4. ahajournals.org ahajournals.org/doi/10.1161/STROKEAHA.122.038585

Updates on Sturge-Weber Syndrome | Stroke Sturge-Weber syndrome brain involvement is marked by a leptomeningeal vascular malformation on contrast enhanced MRI images (Figure 2A and 2B).

5. withpower.com withpower.com/trial/phase-klippel-trenaunay-weber-syndrome-5-2020-06a0b

Neuroimaging for Sturge-Weber Syndrome Magnetic Resonance Spectroscopic Imaging (MRSI) is more effective than conventional MRI in detecting frontal lobe abnormalities in children with Sturge-Weber ...

6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC2678736/

MAGNETIC RESONANCE SPECTROSCOPIC IMAGING ... In Sturge-Weber syndrome (SWS), structural MRI abnormalities are most common in the posterior brain regions. Frontal lobe involvement increases the risk of ...

7. ninds.nih.gov ninds.nih.gov/health-information/disorders/sturge-weber-syndrome

Sturge-Weber Syndrome Sturge-Weber syndrome (SWS) is a rare neurological condition characterized by abnormal development of the small blood vessels (called capillaries) in the brain ...