DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Sturge-Weber syndrome — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleSturge-Weber syndrome maps to a 3-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
approvedSirolimusApproved drug
Structures already discussed alongside sturge-weber syndrome in the retrieved literature, rendered from public PubChem SMILES. Which drugs appear here reflects the evidence found, not a ranked prediction.
Molecular view
ATOMIC STRUCTURE OF THE RAPAMYCIN HUMAN IMMUNOPHILIN FKBP-12 COMPLEX — Sirolimus has a real, experimentally solved structure in complex with this target (PDB 1FKB, 1.7 Å). This is the drug's own deposited structure, not a prediction, and confirms it is a structurally characterised molecule rather than an untested guess.
Loading structure…
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RCSB Protein Data Bank · entry 1FKB · 1.7 Å · ligand Sirolimus (RAP). Experimental structure, not a prediction.
What the evidence adds up to
Sturge-Weber syndrome is a rare neurocutaneous disorder defined by a facial port-wine stain, leptomeningeal angiomatosis, and glaucoma, though intracranial changes can occur without skin involvement. Seizures affect up to 75% of individuals, often with headache and stroke-like episodes causing prolonged neurological deficits. Most patients with radiographic evidence of intracranial angioma develop convulsive crises, but only half have severe mental retardation. A 2000 case report describes a 13-year-old boy hospitalised with status epilepticus who had convulsive seizures since age 15 months, treated with carbamazepine 400 mg daily; his brain CT showed calcification of the left parieto-occipital gyrus, initially misdiagnosed as neurocysticercosis in an endemic region.
A 2025 transcriptomic study examined 119,446 cells isolated from malformed brain tissue and peri-lesion tissue from patients with Sturge-Weber syndrome. The analysis revealed a complex landscape of cell heterogeneity and a distinct cell substate associated with disease evolution. A unique fibroblast cluster and molecular mechanism were identified as contributors to the development of the leptomeningeal vascular malformation. The authors state these findings expand understanding of the syndrome and open avenues for therapeutic interventions, but no specific drug or treatment is tested or proposed in this study.
No clinical trial data, survival statistics, or response rates for any drug are reported in these abstracts. The 2000 case report mentions only carbamazepine for seizure control, with no efficacy data. The 2025 transcriptomic profiling identifies potential molecular targets but does not test any intervention. What remains missing is any clinical trial testing a specific drug in Sturge-Weber syndrome, adequate funding for translational research from these transcriptomic findings, and a defined patient stratification strategy to identify who might benefit from any future targeted therapy.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Analysis of Sturge–Weber syndrome: A retrospective study of multiple associated variables
AbstractSturge–Weber syndrome is a congenital vascular disorder characterised by facial capillary malformation (port-wine stain) associated with venous and capillary malformations in the brain and eye. Neurological symptoms and alterations in other locations may also be observed. This study describes the clinical and epidemiological characteristics and different treatments in a cohort of patients diagnosed with Sturge–Weber syndrome in a tertiary hospital. This comparative, retrospective and cross-sectional study was conducted by reviewing the medical records of patients diagnosed with Sturge–Weber syndrome between 1998 and 2013. The study included 13 patients (54% male, 46% female) diagnosed with Sturge–Weber syndrome. The mean age at diagnosis was 15 months. Leptomeningeal angiomatosis was present in 100% of cases: right hemisphere (46%), left hemisphere (38%), and bilateral (15%). Facial angioma was present in 61% of the cases: right (23%), left (38%) and bilateral (7%). Other skin disorders were found in 23% of the cases, including 2 with hemilateral involvement on the side where facial and leptomeningeal angiomatosis was present and one case of generalised cutis marmorata. Ocular disease was found in 77% of patients; the most common conditions were glaucoma (46%), strabismus (23%) and choroidal angioma (23%). Epilepsy was present in 100% of the cases, with partial seizures (simple or complex) being the most frequent (62%). Seizure control was highly variable; 31% of the patients had needed to try more than 3 drugs, 15% 3 drugs, and 31% 2 drugs, while 23% experienced good seizure control with monotherapy. One patient required surgery for epilepsy (left hemispherectomy) and has been seizure-free since then. The most frequent observations in electroencephalograms were spikes, polyspikes, and wave spikes in the lobes affected by leptomeningeal angiomatosis (46%). Other neurological symptoms were hemiparesis (39%), recurrent headaches (39%), stroke-like episodes (23%), psychomotor retardation (46%), and mental retardation (46%). Leptomeningeal calcifications could be seen in 85% of patient MRIs, as well as increased calcification in 70%; 54% of the patients had been treated with aspirin. There are multiple clinical manifestations of Sturge–Weber syndrome. Being familiar with all of them is vitally important for diagnosing and for monitoring and treating the condition correctly, which will improve the quality of life of these patients. El síndrome de Sturge-Weber es un trastorno vascular congénito caracterizado por una malformación facial capilar (mancha en vino de Oporto) asociada a malformaciones venosas y capilares en el cerebro y en el ojo. También pueden observarse alteraciones en otras localizaciones y síntomas neurológicos. Describir las características clínicas y epidemiológicas, así como los diferentes tratamientos realizados en una cohorte de pacientes diagnosticados de síndrome de Sturge-Weber en un hospital terciario. Estudio comparativo, retrospectivo y transversal, mediante la revisión de historias clínicas de pacientes diagnosticados de síndrome de Sturge-Weber entre los años 1998 y 2013. Se incluyeron 13 pacientes (54% varones, 46% mujeres) diagnosticados de síndrome de Sturge-Weber. La edad media al diagnóstico fue de 15 meses. Presencia de angiomatosis leptomeníngea en el 100% de los casos: hemisferio derecho (46%), hemisferio izquierdo (38%), afectación bilateral (15%). Presencia de angioma facial (61%): derecho (23%), izquierdo (38%) y bilateral (7%). Otras alteraciones cutáneas: 23% de los casos (2 de ellos la afectación en el hemicuerpo del lado en el que se encontraba también la angiomatosis facial y leptomeníngea y en el otro caso la afectación cutánea fue en forma de cutis marmorata generalizada). Encontramos afectación ocular en el 77% de los pacientes, siendo las más frecuentes: glaucoma (46%), estrabismo (23%) y angiomatosis coroidea (23%). Presencia de epilepsia 100% de los casos, siendo las crisis parciales (simples o complejas) las más frecuentes (62%). El control de las crisis epilépticas fue muy variable, ya que el 31% han necesitado probar más de 3 fármacos, 15% 3 fármacos, 31% 2 fármacos y 23% tuvieron buen control con monoterapia. Uno de los pacientes requirió cirugía de la epilepsia (hemisferectomía izquierda), quedando libre de crisis hasta la fecha. En electroencefalogramas lo más frecuente fue: puntas, puntas ondas o polipuntas-ondas en los lóbulos afectados por angiomatosis leptomeníngea (46%). Otros síntomas neurológicos: hemiparesia (39%), cefaleas recurrentes (39%), episodios stroke-like (23%), retraso psicomotor (46%), retraso mental (46%). Presencia calcificaciones leptomeníngeas en la resonancia magnética (85%). Aumento de las calcificaciones en el 70%. Pacientes tratados con ácido acetilsalicílico: 54%. Son múltiples las manifestaciones clínicas del síndrome de Sturge-Weber, siendo de vital importancia conocerlas todas para poder realizar un correcto diagnóstico, seguimiento y tratamiento de las mismas, mejorando así la calidad de vida de estos pacientes.
Facial hemihypertrophy in a girl with sturge‐weber syndrome: Treatment with oral sirolimus
AbstractIn the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. The mTOR inhibitors may be useful in the treatment of some patients with SWS.
Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome
AbstractSturge-Weber syndrome is a rare, sporadic, neurocutaneous disorder classically characterized by a facial nevus in the trigeminal distribution (port wine stain), leptomeningeal angiomatosis, and glaucoma, although intracranial changes can be present without cutaneous involvement.1 Seizures occur in up to 75% of individuals, are often associated with headache, and stroke-like episodes causing prolonged neurologic deficits are also described.1,2
Advanced Science · 2025 · 4 citations · open access
Transcriptomic Profiling Unveils <i>EDN3</i> <sup>+</sup> Meningeal Fibroblasts as Key Players in Sturge‐Weber Syndrome Pathogenesis
AbstractSturge-Weber syndrome (SWS) is characterized by leptomeningeal vascular malformation, resulting in significant risks of life-threatening seizures and strokes. The current absence of specific treatments underscores the need to define the molecular and cellular mechanisms that drive the progression of SWS. Here, the transcriptome of 119 446 cells isolated from both malformed tissues and peri-lesion tissues from the brains of patients with SWS is examined. This comprehensive analysis finds a complex landscape of cell heterogeneity and distinct cell substate associated with the evolution of this disease are revealed. Notably, a unique fibroblast cluster and molecular mechanism are identified that contribute to the development of SWS. These findings not only expand the understanding of SWS but also open up promising avenues for therapeutic interventions.
Asian Journal of Pharmaceutical and Clinical Research · 2018 · 1 citations · open access
STURGE-WEBER SYNDROME: A CASE REPORT
AbstractTo report a clinical case of Sturge-Weber syndrome (SWS) 1 year 8-month-old male child reported to Saveetha Medical College, Physiotherapy Department presented with complaints of difficulty in sitting, standing, and walking. Computed tomography brain revealed unilateral calcification and cerebral atrophy on the right side. Physical diagnosis revealed the child had left hemiparesis with developmental delay. The child had a developmental delay with a motor developmental age of 2 months. As clinical manifestations of SWS are wide, it leads to multidisciplinary approaches. Physiotherapist’s knowledge is important for early diagnosis and to provide an adequate physiotherapy treatment.
Síndrome de Sturge-Weber. Diagnóstico diferencial de la neurocisticercosis
AbstractINTRODUCTION: The Sturge-Weber syndrome is characterized by facial cutaneous angioma associated with leptomeningeal and cerebral angioma, typically ipsilateral to the facial lesion, which is accompanied by convulsions, mental retardation, contralateral hemiparesia, hemiatrophy, homonymous hemianopsia and glaucoma. Most of the patients with radiographic evidence of intracranial angioma develop convulsive crises, but only half have severe mental retardation. The image of calcification on cranial tomography often leads to confusion in diagnosis, especially with neurocysticercosis, particularly in places where this is endemic and the patients present with minimal skin lesions or these are at atypical sites. CLINICAL CASE: We present the case of a 13 year-old boy hospitalized with status epilepticus who, since the age of 1 year and 3 months, had had convulsive seizures which were of generalized tonic-clonic type and partially complex with secondary generalization, treated with carbamazepine at a dose of 400 mg per day. Neurocysticercosis was diagnosed on a tomogram showing calcification of the left parieto-occipital gyrus. Following physical examination and complementary tests the diagnosis of Sturge-Weber syndrome was made. CONCLUSION: We emphasize the importance of the diagnosis of Sturge-Weber syndrome, its clinical picture and treatment.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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