DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for ciliary dyskinesia, primary, 45 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleCiliary dyskinesia, primary, 45 maps to a 2-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 ciliary dyskinesia, primary, 45 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.
What the evidence adds up to
Primary ciliary dyskinesia (PCD) is a rare genetic disease affecting cilia motility, leading to impaired mucociliary clearance. The vast majority of patients with PCD have not been diagnosed, a major obstacle to care. Diagnosis is challenged by a lack of disease-specific symptoms and the absence of a single gold-standard diagnostic test. Management is not based on high-level evidence; research findings come mostly from small observational studies with limited follow-up. Late diagnosis is common, by which time damage to the respiratory system has already occurred. In the past, only a few patients were diagnosed with the test combination recommended by guidelines (nasal nitric oxide, genetic testing, and biopsy for electron or video microscopy).
A 2014 report described biopsies from six children with clinical presentations suggestive of PCD. These biopsies showed respiratory epithelial cells with disorganised accumulations of basal bodies within the cytoplasm and large intracytoplasmic vesicles into which numerous microvilli and cilia projected. Microvilli, but few cilia, were present at the cell surface. Ultrastructural study revealed a variety of nonspecific abnormalities, but the cilia were generally morphologically normal, suggesting the cause of malfunction was not a recognised primary cause or secondary effect. Repeat studies from two patients produced similar findings. The authors proposed this entity, termed ciliary inclusion disease, as a variant form of PCD resulting from improper ciliogenesis caused by inhibited cytoskeleton-regulated migration of basal bodies to the luminal surface.
A 2018 article described a clinical observation of a patient who was a carrier of a rare mutation in the CCNO gene, noting the features of that case. A 2024 case report shared a patient with PCD and situs ambiguous, a rare situs anomaly; approximately half of all PCD cases are associated with situs inversus totalis. The disease is characterised by an autosomal recessive mode of inheritance with marked genetic heterogeneity. What remains missing is a validated, accessible diagnostic standard that can be applied broadly, high-level evidence from larger and longer studies to guide management, and systematic patient stratification by genotype or ultrastructural variant to enable targeted research.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
European Respiratory Review · 2017 · 72 citations · open access
Clinical care for primary ciliary dyskinesia: current challenges and future directions
AbstractPrimary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia, leading to impaired mucociliary clearance. It is estimated that the vast majority of patients with PCD have not been diagnosed as such, providing a major obstacle to delivering appropriate care. Challenges in diagnosing PCD include lack of disease-specific symptoms and absence of a single, "gold standard", diagnostic test. Management of patients is currently not based on high-level evidence because research findings are mostly derived from small observational studies with limited follow-up period. In this review, we provide a critical overview of the available literature on clinical care for PCD patients, including recent advances. We identify barriers to PCD research and make suggestions for overcoming challenges.
Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 2018 · 9 citations · open access
Rare mutation of the CCNO gene in patients with primary ciliary dyskinesia
AbstractPrimary ciliary dyskinesia is a rare genetically determined pathology leading to the development of chronic inflammatory lesions of the respiratory system in children, impaired fertile function in older patients. The disease is characterized by an autosomal recessive mode of inheritance with marked genetic heterogeneity. The article describes clinical observation of a patient – carrier of a rare mutation and describes the features of this case. Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported.
Pediatric and Developmental Pathology · 2014 · 8 citations
Ciliary Inclusion Disease: Report of a New Primary Ciliary Dyskinesia Variant
AbstractBiopsies from 6 children with clinical presentations suggestive of primary ciliary dyskinesia (PCD) displayed respiratory epithelial cells with disorganized accumulations of basal bodies within the cytoplasm and large intracytoplasmic vesicles into which projected numerous microvilli and cilia. Microvilli, but few cilia, were present at the cell surface. Ultrastructural study revealed a variety of nonspecific abnormalities but demonstrated the cilia generally to be morphologically normal, suggesting that the cause of cilia malfunction was not any recognized primary cause or secondary effect. Repeat studies from 2 patients produced similar findings. It is proposed that this entity, termed ciliary inclusion disease, represents a variant form of PCD manifesting as a consequence of improper ciliogenesis caused by inhibited cytoskeleton-regulated migration of basal bodies to the luminal surface of the airway respiratory epithelial cells.
Tidsskrift for Den norske legeforening · 2016 · 1 citations · open access
Primær ciliedyskinesi
AbstractPrimary ciliary dyskinesia (PCD) is a rare disease, but causes symptoms that resemble far more common respiratory diseases. Late diagnosis is common, when damage to the respiratory system has already occurred. This article aims to elucidate the condition and the diagnostic methods available. The article is based on literature searches in PubMed and the author's own experience of patient treatment and clinical research.
Diagnostic testing in people with primary ciliary dyskinesia around the world: where do we stand?
AbstractIntroduction In the past, only few patients with primary ciliary dyskinesia (PCD) were diagnosed with the test combination recommended by guidelines (nasal nitric oxide (nNO), genetic testing, and biopsy for electron or video microscopy) [Halbeisen, ERJ, 2019]. In a large international participatory study of people with PCD, we assessed the current situation.
Respiratory Case Reports · 2024 · 0 citations · open access
A Case of Primary Ciliary Dyskinesia Syndrome with Situs Ambiguous
AbstractPrimary ciliary dyskinesia (PCD) is a rare autosomal recessive disease that develops as a result of ciliary dysfunction, and that presents with clinical findings that may vary depending on the affected system.Situs anomalies are common with PCD.Although approximately half of all cases are associated with situs inversus totalis, they may rarely be associated with situs ambiguous, which is a rare situs anomaly.We share this case of PCD with situs ambiguous due to its rarity.
[Primary ciliary dyskinesia associated with a novel DNAH11 genetic variant: a case report].
AbstractPrimary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder associated with abnormalities in ciliary structure and function. Here, we report A 22-year-old non-smoking Chinese man with recurrent episodes of respiratory tract infections and sinusitis since high school period. The diagnosis is more complicated by the atypical symptoms and the late age of onset. We summarized the clinical characteristics of this case and literature review. This report aimed to improve the clinical understanding of primary ciliary dyskinesia.
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.
