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Weber Syndrome

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

Brain magnetic resonance imaging

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

Neuro-psychology testing

Csaba Juhasz, MD, PhD

Aimee Luat, MD

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.

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.

Longitudinal Neuroimaging in Sturge-Weber Syndrome

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.

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.

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.

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.

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.

National Institutes of Health (NIH)

Wayne State University

Professor

Breast Neoplasms

Breast Diseases

Skin Diseases

Bihong T. Chen, MD., Ph.D

This study will use advanced MRI techniques to characterize the changes that occur to the structure and functionality of the brain in older breast cancer patients receiving adjuvant chemotherapy, and determine the relationship between the brain changes and severity of chemotherapy toxicity. Our results will be an early step towards identifying neuroimaging markers of aging, breast cancer and chemotherapy treatment, and will contribute to our understanding of the underlying pathophysiology of cognitive changes and chemotherapy toxicity in vulnerable, older adults with cancer. Furthermore, the work will lay the foundation for future, larger scale clinical studies of cognitive changes and chemotherapy toxicity in the aging cancer population.

Breast cancer is the leading cancer diagnosed among woman in the US and is the second leading cause of cancer deaths. Adjuvant chemotherapy has been proven to decrease the risks of relapse and mortality from breast cancer. However, older adults are at increased risk for chemotherapy toxicity, including an increased risk of treatment-related mortality. At present, there is only preliminary evidence regarding which brain structures and functions are affected by chemotherapy and toxicity in breast cancer patients. However, this prior research did not specifically study older women. Thus, there is a need to establish a more sensitive test that has reproducible biomarkers, to identify the older breast cancer patients who are at higher risk for chemotherapy toxicity Our long term goal is to identify highly sensitive and reproducible brain MRI biomarkers that are associated with chemotherapy toxicity in aging cancer patients. Toward that goal, the objective of this study is to define the changes that occur on brain MRI and to determine the relationship between brain MRI changes and chemotherapy toxicity in older adults with breast cancer. We aim to 1) define structural and functional changes that occur on brain MRI of older women with breast cancer receiving adjuvant chemotherapy and; 2) determine the relationship between the severity of structural and functional changes on brain MRI and chemotherapy toxicity. We expect that the severity of structural and functional changes to the brain MRI in our patients will correlate with the severity of chemotherapy toxicity. The proposed study is significant because it focuses on the unknown relationship between brain MRI changes and chemotherapy toxicity in older women with breast cancer. It is innovative because it proposes advanced MRI techniques to study and identify the novel potential biomarkers for chemotherapy toxicity in older adults with breast cancer. It will have a positive impact by helping to clarify the underlying pathophysiology of cognitive decline caused by chemotherapy toxicity. The data generated from this pilot study will also help to serve as a foundation for future large scale studies of cognition and chemotherapy in older adults.

Brain Functional MRI in Older Women With Breast Cancer (Brain fMRI-BC)

A Pilot Study of Structural and Functional Brain Magnetic Resonance Imaging Findings of Chemotherapy Toxicity in Older Women With Breast Cancer

Prior to and after chemotherapy in older patients with breast cancer.

Secondary measures include the changes in cognitive assessment measured by NIH Toolbox cognitive testing prior to and after chemotherapy.

These secondary measures include gray matter density, fractional anisotropy (FA) and resting-state brain connectivity.

Chemotherapy toxicity as a secondary outcome measure will be captured in a standardized manner using the NCI Common Toxicity Criteria for Adverse Events (v4.0) (NCI CT CAE version 4.0). Furthermore, we will determine the association of the brain MRI parameters for both structure and function with chemotherapy toxicity in older patients with breast cancer.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Longitudinal Neuroimaging in Sturge-Weber Syndrome	NCT04517565	Sturge-Weber Sy...	Brain magnetic ... Neuro-psycholog...	3 Months - 30 Years	Wayne State University
Brain Functional MRI in Older Women With Breast Cancer (Brain fMRI-BC)	NCT01992432	Breast Cancer		65 Years -	City of Hope Medical Center

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