DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Coffin-Lowry 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.
Disease moduleCoffin-Lowry syndrome maps to a 1-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
No approved-drug candidate for coffin-lowry 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.
Molecular view
ribosomal protein S6 kinase A3 (RPS6KA3) — RPS6KA3 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.
Loading structure…
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RCSB Protein Data Bank · entry 4D9T · 2.4 Å · ligand methyl (2S)-3-{4-amino-7-[(1E)-3-hydroxyprop-1-en-1-yl]-5-(4-methylphenyl)-7H-pyrrolo[2,3-d]pyrimidin-6-yl}-2-cyanopropanoate (0JG). Experimental structure, not a prediction.
What the evidence adds up to
The 2000 case report describes a single patient with Coffin-Lowry syndrome in Brazil, noting typical facies, dental-skeletal anomalies, and mental retardation as diagnostic clues confirmed by hand radiography. The authors state the condition is probably underdiagnosed in that country. No treatment or intervention is discussed.
A 2013 report on ocular surgery in a child with Coffin-Lowry syndrome outlines anaesthetic concerns: mental retardation, seizures, difficult airway, cardiac abnormalities including paediatric dilated cardiomyopathy, and skeletal deformities. The paper shares perioperative management experience but provides no data on drug therapy or outcomes beyond the surgical setting.
The 2019 case describes one of the oldest documented males with Coffin-Lowry syndrome, who had severe kyphoscoliosis, paraplegia, and restrictive lung disease. The authors note that approximately 80% of male cases are associated with kyphoscoliosis, which can be severe. No drug intervention is reported; the paper is a description of natural history.
No abstract in this set reports any drug tested for Coffin-Lowry syndrome. There are no survival figures, response rates, or sample sizes beyond single patients. What is missing is any clinical trial, any pharmacological intervention, any patient stratification by genetic mutation, and any funding for drug-repurposing research in this population.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 1981 · 24 citations
Early recognition of the Coffin‐Lowry syndrome
AbstractWe report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. Review of published cases of the Coffin-Lowry syndrome indicates that these manifestations are progressive, and that all of the associated characteristics may not be apparent in early childhood. The importance of continued evaluations of these patients and examination of relatives for mild manifestations is emphasized.
AbstractOBJECTIVE: To promote the diffusion of the knowledge on the Coffin-Lowry syndrome and to contribute to the outline of the disease.METHODS: Case report.RESULTS: The clinical signs of a patient with the Coffin-Lowry syndrome are described and discussed.CONCLUSIONS: The Coffin-Lowry syndrome, a X-linked genetic disease, is probably underdiagnosed in Brazil. The typical facies, dental-skeletal anomalies and mental retardation suggest the diagnosis, which can be clinically established by radiographic study of the hands.
Journal of Anaesthesiology Clinical Pharmacology · 2013 · 8 citations · open access
Ocular surgery in a child with Coffin Lowry syndrome: Anesthetic concerns
AbstractCoffin Lowry syndrome is a rare disease involving multiple organ systems. From the anesthesiologists point of view it involves mental retardation, seizures, difficult airway, cardiac abnormalities (pediatric dilated cardiomyopathy) and skeletal deformities. We share our experience of management of a child with Coffin Lowry syndrome and also discuss the problems faced during perioperative period.
Journal of Investigative Medicine High Impact Case Reports · 2019 · 2 citations · open access
Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
AbstractCoffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our patient, causing paraplegia and restrictive lung disease. In this article, we present the third oldest documented male case of Coffin-Lowry syndrome with severe kyphoscoliosis, paraplegia, and restrictive lung disease.
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.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
