ArticlePediatric neurology2021
Sirolimus Treatment in Sturge-Weber Syndrome.
Article in Pediatric neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
33 citing papers in PubMed, 55 citations in OpenAlex.
- From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity.International journal of molecular sciences · 2026Review
- Development and Retrospective Application of Novel Outcome Measure: Sturge-Weber Syndrome Acute Crisis (SWAC) Index.Annals of the Child Neurology Society · 2026Article
- Steroids for Drug-Resistant Seizures and Prolonged Stroke-Like Episode in a Patient With Sturge-Weber Syndrome: A Case Report.Annals of the Child Neurology Society · 2026Article
- In Vitro Models of Sturge-Weber Syndrome: Strengths, Limitations, and Future Goals.International journal of molecular sciences · 2026Review
- A Case of Previously Undiagnosed Sturge-Weber Syndrome in an African American Patient due to a Missed Port-Wine Stain.Case reports in neurological medicine · 2026Article
- MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Biomarker development in Sturge-Weber syndrome.Journal of neurodevelopmental disorders · 2025Review
- Targeted Therapies for Slow-Flow Vascular Malformations.The Australasian journal of dermatology · 2025Review
- New Trigger for Stroke-like Episode in Sturge-Weber Syndrome: A Case Report.Children (Basel, Switzerland) · 2025Article
- Sturge-Weber Syndrome: A Narrative Review of Clinical Presentation and Updates on Management.Journal of clinical medicine · 2025Review
- Mitochondrial DNA leakage: underlying mechanisms and therapeutic implications in neurological disorders.Journal of neuroinflammation · 2025Review
- R183Q GNAQ Sturge-Weber syndrome Leptomeningeal and Cerebrovascular Developmental Mouse Model.Journal of vascular anomalies · 2024Article
- A Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways.Molecules (Basel, Switzerland) · 2024Review
- Pathophysiology in Brain Arteriovenous Malformations: Focus on Endothelial Dysfunctions and Endothelial-to-Mesenchymal Transition.Biomedicines · 2024Review
- GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.American journal of human genetics · 2024Article
- Longitudinal prospective study of Sturge-Weber syndrome urine angiogenic factors and neurological outcome.Annals of the Child Neurology Society · 2024Article
- Real-World Data on the Use of Sirolimus in Asian Children with Vascular Malformations.Paediatric drugs · 2024Article
- Sturge-Weber syndrome: an update for the pediatrician.World journal of pediatrics : WJP · 2024Review
- Capillary malformations.The Journal of clinical investigation · 2024Review
- mTOR inhibitor reduces nontumour-related death in liver transplantation for hepatocellular carcinoma.Molecular biomedicine · 2024Article
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 1 country.
Funding
Abstract
backgroundSturge-Weber syndrome is a rare neurovascular disorder associated with capillary malformation, seizures, cognitive impairments, and stroke-like episodes (SLEs), arising from a somatic activating mutation in GNAQ. Studies suggest this mutation may cause hyperactivation of the mammalian target of rapamycin pathway. Sirolimus is an mammalian target of rapamycin inhibitor studied in other vascular anomalies and a potentially promising therapy in Sturge-Weber syndrome.
methodsTen patients with Sturge-Weber syndrome brain involvement and cognitive impairments were enrolled. Oral sirolimus was taken for six months (maximum dose: 2 mg/day, target trough level: 4-6 ng/mL). Neuropsychological testing, electroencephalography, and port-wine score were performed at baseline and after six months on sirolimus. Neuroquality of life, adverse events, and Sturge-Weber Syndrome Neurological Score (neuroscore) were recorded at each visit.
resultsSirolimus was generally well tolerated; one subject withdrew early. Adverse events considered related to sirolimus were mostly (15/16) grade 1. A significant increase in processing speed was seen in the overall group (P = 0.031); five of nine patients with available data demonstrated statistically rare improvement in processing speed. Improvements were seen in the neuroquality of life subscales measuring anger (P = 0.011), cognitive function (P = 0.015), and depression (P = 0.046). Three subjects experiencing SLEs before and during the study reported shortened recovery times while on sirolimus.
conclusionsSirolimus was well tolerated in individuals with Sturge-Weber syndrome and may be beneficial for cognitive impairments, especially in patients with impaired processing speed or a history of SLE. A future, randomized, placebo-controlled trial of sirolimus in patients with Sturge-Weber syndrome is needed to further understand these potentially beneficial effects.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.