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

Trial Summary

What is the purpose of this trial?

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.

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 data supports the idea that Neuroimaging for Sturge-Weber Syndrome is an effective treatment?

The available research shows that neuroimaging, specifically MRI, is effective in detecting early signs of Sturge-Weber Syndrome in children who have a facial birthmark. This early detection can help in managing the condition before symptoms appear. Additionally, MRI can identify brain areas that might be affected, which is crucial for planning treatment. While the studies don't directly compare neuroimaging to other treatments, they highlight its importance in diagnosing and understanding the extent of the condition, which is a key step in effective management. ^{1 2 3 4 5}

What safety data exists for neuroimaging in Sturge-Weber Syndrome?

The research provided does not directly address safety data for neuroimaging techniques like MRI, DWMRI, or other related assessments in Sturge-Weber Syndrome. The studies focus on the diagnostic capabilities and effectiveness of these imaging techniques in detecting brain abnormalities associated with the syndrome. However, MRI and its variants are generally considered safe, non-invasive diagnostic tools commonly used in clinical settings. ^{1 2 6 7 8}

Is Brain Magnetic Resonance Imaging (MRI) a promising treatment for Sturge-Weber Syndrome?

Yes, Brain MRI is a promising treatment for Sturge-Weber Syndrome. It helps doctors see brain abnormalities and assess the extent of the disease. MRI can detect issues in the brain that might not be visible with other methods, which is important for understanding and managing the condition. ^{2 4 6 8 9}

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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+

Findings from Research

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]

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]

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]

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]

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]

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]

References

1. England pubmed.ncbi.nlm.nih.gov

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. [2020]

2. United States pubmed.ncbi.nlm.nih.gov

Magnetic resonance spectroscopic imaging detects abnormalities in normal-appearing frontal lobe of patients with Sturge-Weber syndrome. [2018]

3. United States pubmed.ncbi.nlm.nih.gov

MR and MR angiography of Sturge-Weber syndrome. [2021]

4. United States pubmed.ncbi.nlm.nih.gov

Cerebral perfusion abnormalities in children with Sturge-Weber syndrome shown by dynamic contrast bolus magnetic resonance perfusion imaging. [2015]

5. United States pubmed.ncbi.nlm.nih.gov

Accelerated myelination in early Sturge-Weber syndrome demonstrated by MR imaging. [2019]

6. France 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. [2019]

7. United States 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. [2021]

8. England pubmed.ncbi.nlm.nih.gov

Sturge-Weber syndrome: study of 55 patients. [2019]

9. United States pubmed.ncbi.nlm.nih.gov

Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. [2021]