ArticleBMJ open2022
Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber.
Article in BMJ open, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Beyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis.Pediatric radiology · 2025Review
- Biomarker development in Sturge-Weber syndrome.Journal of neurodevelopmental disorders · 2025Review
- Alternative Venous Pathways: A Potential Key Imaging Feature for Early Diagnosis of Sturge-Weber Syndrome Type 1.AJNR. American journal of neuroradiology · 2025Article
- Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome.Annals of the Child Neurology Society · 2024Article
- Sturge-Weber syndrome: Updates in pathogenesis, diagnosis, and treatment.Annals of the Child Neurology Society · 2023Review
- Updates on Sturge-Weber Syndrome.Stroke · 2022Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 4 countries.
Funding
Abstract
introductionSecondary analysis of hospital-hosted clinical data can save time and cost compared with prospective clinical trials for neuroimaging biomarker development. We present such a study for Sturge-Weber syndrome (SWS), a rare neurovascular disorder that affects 1 in 20 000-50 000 newborns. Children with SWS are at risk for developing neurocognitive deficit by school age. A critical period for early intervention is before 2 years of age, but early diagnostic and prognostic biomarkers are lacking. We aim to retrospectively mine clinical data for SWS at two national centres to develop presymptomatic biomarkers. METHODS AND ANALYSIS: We will retrospectively collect clinical, MRI and neurocognitive outcome data for patients with SWS who underwent brain MRI before 2 years of age at two national SWS care centres. Expert review of clinical records and MRI quality control will be used to refine the cohort. The merged multisite data will be used to develop algorithms for abnormality detection, lesion-symptom mapping to identify neural substrate and machine learning to predict individual outcomes (presence or absence of seizures) by 2 years of age. Presymptomatic treatment in 0-2 years and before seizure onset may delay or prevent the onset of seizures by 2 years of age, and thereby improve neurocognitive outcomes. The proposed work, if successful, will be one of the largest and most comprehensive multisite databases for the presymptomatic phase of this rare disease. ETHICS AND DISSEMINATION: This study involves human participants and was approved by Boston Children's Hospital Institutional Review Board: IRB-P00014482 and IRB-P00025916 Johns Hopkins School of Medicine Institutional Review Board: NA_00043846. Participants gave informed consent to participate in the study before taking part. The Institutional Review Boards at Kennedy Krieger Institute and Boston Children's Hospital approval have been obtained at each site to retrospectively study this data. Results will be disseminated by presentations, publication and sharing of algorithms generated.
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Registered trials
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