Immuno Lab · DeCure for X
DeCure's autonomous Immuno AI scientist is researching a drug-repurposing hypothesis for Sjogren-Larsson syndrome — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
No approved-drug candidate for sjogren-larsson syndrome is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
aldehyde dehydrogenase 3 family member A2 (ALDH3A2) — ALDH3A2 is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
RCSB Protein Data Bank · entry 4QGK · 2.1 Å · ligand none (apo structure). Experimental structure, not a prediction.
In a 1980 study of all 35 Swedish patients with Sjögren-Larsson syndrome, glistening dots of unknown nature were seen around the foveola, and these foveal and parafoveal changes were proposed as a cardinal sign alongside congenital ichthyosis, spastic di/tetraplegia, and mental deficiency. A 2008 report of two new cases described histopathological examination of the skin in one case as showing ichthyosis vulgaris, which the authors noted did not agree with the clinical and genetic classification; that same case died of neuroblastoma, and neuropathological examination showed symmetrical demyelination of some ascending and descending long tracts in the medulla and spinal cord. A 2003 report of a nine-year-old Turkish girl with the classical features of the syndrome also documented peripheral nerve involvement, and the authors stated that only three such cases had previously been reported in the literature.
A 2020 retrospective case review from the University of Nebraska Medical Center examined 14 patients with Sjögren-Larsson syndrome undergoing 48 anaesthetic events between February 2013 and October 2019. No serious adverse events were encountered. The most common clinical observations related to the ichthyosis, which caused difficulty in adherence of electrocardiogram leads and intravenous catheter dressings. The authors concluded that anaesthesia can be safely administered in these patients, but providers should be aware of challenges placing and securing lines and monitors secondary to the ichthyosis.
A 2012 review article, based on original research data from one of the world's largest clinical study cohorts, discussed clinical features in order of appearance, diagnostic tests, and current and future treatment strategies. No specific drug therapy or repurposing candidate is mentioned in any of these abstracts. What remains missing is any controlled trial of a pharmacological intervention for Sjögren-Larsson syndrome, as well as funding for such trials and any validated patient stratification beyond clinical phenotype.
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractAll Swedish cases with the Sjögren-Larsson syndrome (SLS) i.e. 35 patients were studied. Glistening dots of unknown nature were seen round the foveola. These foveal and parafoveal changes seem to be a cardinal sign of SLS together with congenital ichthyosis, spastic di/tetraplegia and mental deficiency.
https://doi.org/10.1111/j.1755-3768.1980.tb05730.xAbstractThis review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.
https://doi.org/10.1007/s10545-012-9518-6AbstractThe clinical features of 2 new cases of Sjögren-Larsson syndrome are described. Histopathological examination of the skin in 1 of the cases revealed an ichthyosis vulgaris, which does not agree with the clinical and genetic classification. In the same case, a neuroblastoma was the cause of death, and neuropathological examination showed a symmetrical demyelination of some ascending and descending long tracts in the medulla and spinal cord.
https://doi.org/10.1159/000115142AbstractBACKGROUND: Sjögren-Larsson syndrome is a rare inherited neurocutaneous disorder characterized by congenital ichthyosis, spasticity, intellectual disability, seizures, and ophthalmologic changes. Most individuals with Sjögren-Larsson syndrome live well into adulthood and often require surgical intervention to manage their symptomatology. AIMS: The aim of this work was to review the clinical aspects of Sjögren-Larsson syndrome, highlight the unique anesthetic considerations associated with this disease, and provide practical recommendations about anesthetic management. METHODS: A retrospective case review from February 2013 to October 2019 was performed based on subject participation in a Sjögren-Larsson syndrome longitudinal study at the University of Nebraska Medical Center. Anesthetic and surgical records were reviewed for the following data: age, sex, relevant comorbid conditions, anesthetic induction and maintenance agents, intravenous and oral analgesics, muscle relaxants, and anesthetic-related complications. RESULTS: Fourteen patients with Sjögren-Larsson syndrome undergoing 48 anesthetic events were identified. A variety of anesthetic techniques was utilized. No serious adverse events were encountered. The most common clinical observations were related to the ichthyosis seen in Sjögren-Larsson syndrome, which led to difficulty in adherence of electrocardiogram leads and intravenous catheter dressings. CONCLUSIONS: We found that anesthesia can be safely administered in patients with Sjögren-Larsson syndrome. Providers should be aware of anesthetic management issues in Sjögren-Larsson syndrome including challenges placing and securing lines and monitors secondary to the ichthyosis.
https://doi.org/10.1111/pan.14034AbstractSjören-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation. In this article, we present a nine-year-old girl with the classical features of the syndrome associated with peripheral nerve involvement because of its rare presentation. To the best of our knowledge, only three cases of Sjören-Larsson syndrome with peripheral nerve involvement have been previously reported in the literature. We assume that Sjören-Larsson syndrome involves extensive disorders of the ectodermal tissues, including the peripheral nerves as well as the skin and the central nervous system.
https://doi.org/10.1111/j.1346-8138.2003.tb00375.xDisease 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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