Alejandro J De la Torre1, Aimee F Luat2, Csaba Juhász2, Mai Lan Ho3, Davis P Argersinger4, Kara M Cavuoto5, Mabel Enriquez-Algeciras5, Stephanie Tikkanen6, Paula North7, Craig N Burkhart8, Harry T Chugani9, Karen L Ball10, Anna Lecticia Pinto11, Jeffrey A Loeb12. 1. Department of Neurology, Northwestern University, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois. 2. Department of Pediatrics and Neurology, Wayne State University, Children's Hospital of Michigan, Detroit, Michigan. 3. Department of Radiology, Mayo Clinic, Rochester, Minnesota. 4. Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland. 5. Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida. 6. School of Communication Studies, Ohio University, Athens, Ohio. 7. Department of Pediatric Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin. 8. Department of Dermatology, University of North Carolina, Chapel Hill, North Carolina. 9. Department of Neurology, Nemours DuPont Hospital for Children, Wilmington, Delaware. 10. The Sturge-Weber Foundation, Houston, Texas. 11. Department of Neurology, Harvard Medical School, Children's Hospital Boston, Boston, Massachusetts. 12. Department of Neurology and Rehabilitation, University of Illinois, Chicago, Illinois. Electronic address: jaloeb@uic.edu.
Abstract
BACKGROUND: Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. A major focus moving ahead will be to turn knowledge gaps and unmet needs into new research directions. METHODS: On October 1-3, 2017, the Sturge-Weber Foundation assembled clinicians from the Clinical Care Network with patients from the Patient Engagement Network of the Sturge-Weber Foundation to identify our current state of knowledge, knowledge gaps, and unmet needs. RESULTS: One clear unmet need is a need for consensus guidelines on care and surveillance. It was strongly recommended that patients be followed by multidisciplinary clinical teams with life-long follow-up for children and adults to monitor disease progression in the skin, eye, and brain. Standardized neuroimaging modalities at specified time points are needed together with a stronger clinicopathologic understanding. Uniform tissue banking and clinical data acquisition strategies are needed with cross-center, longitudinal studies that will set the stage for new clinical trials. A better understanding of the pathogenic roles of cerebral calcifications and stroke-like symptoms is a clear unmet need with potentially devastating consequences. CONCLUSIONS: Biomarkers capable of predicting disease progression will be needed to advance new therapeutic strategies. Importantly, how to deal with the emotional and psychological effects of Sturge-Weber syndrome and its impact on quality of life is a clear unmet need.
BACKGROUND:Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. A major focus moving ahead will be to turn knowledge gaps and unmet needs into new research directions. METHODS: On October 1-3, 2017, the Sturge-Weber Foundation assembled clinicians from the Clinical Care Network with patients from the Patient Engagement Network of the Sturge-Weber Foundation to identify our current state of knowledge, knowledge gaps, and unmet needs. RESULTS: One clear unmet need is a need for consensus guidelines on care and surveillance. It was strongly recommended that patients be followed by multidisciplinary clinical teams with life-long follow-up for children and adults to monitor disease progression in the skin, eye, and brain. Standardized neuroimaging modalities at specified time points are needed together with a stronger clinicopathologic understanding. Uniform tissue banking and clinical data acquisition strategies are needed with cross-center, longitudinal studies that will set the stage for new clinical trials. A better understanding of the pathogenic roles of cerebral calcifications and stroke-like symptoms is a clear unmet need with potentially devastating consequences. CONCLUSIONS: Biomarkers capable of predicting disease progression will be needed to advance new therapeutic strategies. Importantly, how to deal with the emotional and psychological effects of Sturge-Weber syndrome and its impact on quality of life is a clear unmet need.
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