DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for cleidocranial dysplasia 1 — 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 moduleCleidocranial dysplasia 1 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
No approved-drug candidate for cleidocranial dysplasia 1 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
SPT3 homolog, SAGA and STAGA complex component (SUPT3H) — SUPT3H 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…
helix sheet ihpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7KTR · 2.93 Å · ligand INOSITOL HEXAKISPHOSPHATE (IHP). Experimental structure, not a prediction.
What the evidence adds up to
Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia caused by mutation in the RUNX2 gene on chromosome 6p21. The incidence is about one per million. The condition is characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. In a 2009 case report of three siblings, generalised bone dysplasia, prolonged retention of primary teeth, and delayed eruption of permanent teeth were evident, but notably no supernumerary teeth were present. Mandibular prognathism was intercepted with occipital chin cup therapy. A 2022 case report identified a new frameshift mutation, RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupA p.(Val179fs), by gene analysis.
No drug treatment for cleidocranial dysplasia is mentioned in any of the abstracts. Medical management is directed at orthopaedic and dental correction, with a team approach focused on providing aesthetic facial appearance and functioning occlusion by late adolescence or early adulthood. The 2012 review states that individuals should be followed by a team of specialists or by individual specialists familiar with the problems associated with the condition. The 2009 report notes that CCD carries implications for complications such as skeletal malocclusion and dental caries.
What is still missing is any pharmacological intervention for the underlying skeletal dysplasia, any clinical trial testing a drug in CCD patients, and any attempt to stratify patients by mutation type or severity. No drug has been repurposed or proposed for this condition in the available literature.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Cases Journal · 2008 · 58 citations · open access
Clinical spectrum of cleidocranial dysplasia: a case report
AbstractBACKGROUND: Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited, be transmitted as dominant characteristics in either sex, or even may appear spontaneously. It presents with skeletal defects of several bones, like partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. CASE PRESENTATION: In this case report, we describe an otherwise healthy 30 year-old male with a chief complaint of missing anterior maxillary and Mandibular teeth. CONCLUSION: Cleidocranial dysplasia is very rare in occurrence, incidence being 1: 1,000,000. Since early diagnosis of cleidocranial dysplasia is essential for initiating the appropriate treatment approach, clinicians should be aware of the characteristic features. We report a case of cleidocranial dysplasia because of its rarity.
Journal of Clinical and Experimental Investigations · 2012 · 9 citations · open access
Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management
AbstractCleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal change. Cleidocranial dysplasia is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2 (RUNX2). Individuals with CCD should be followed by either a team of specialist or by individual specialist familiar with the problems that can be associated with this condition.
International Journal of Clinical Pediatric Dentistry · 2009 · 6 citations · open access
Cleidocranial Dysplasia: Case Report of Three Siblings
AbstractBACKGROUND: A family case report of cleidocranial dysplasia (CCD) with varied manifestations from father to three siblings is presented. CCD ( MIM # 119600) is a rare autosomal dominant skeletal dysplasia caused by CBAF1 gene ( OMIM 600211) with a wide range of variability. In all the cases generalized dysplasia in bone, prolonged retention of primary teeth and delayed eruption of permanent teeth were evident. Interestingly, there were no supernumerary teeth present. There was mandibular prognathism which was intercepted by occipital chin cup therapy. AIMS AND OBJECTIVE: To present the clinical manifestations, diagnostic imaging and treatment modalities along with dermatoglyphics in CCD patients. CONCLUSION: Cleidocranial dysplasia is an uncommon disorder however its clinical and radiological features are characteristic. In addition the CCD patients may be distinguished by specific dermatoglyphic markers. It carries with it several implications in terms of complications like skeletal malocclusion, dental caries, etc. Medical treatment is mainly directed at orthopedic and dental correction. A team approach to the management of dental abnormalities on a long-term basis with the overall goal to provide an esthetic facial appearance and functioning occlusion by late adolescence or early adulthood should be focused.
Cleidocranial dysplasia: a case report and gene mutation analysis.
AbstractCleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1 000 000. In this study, a case of cranio-clavicular dysplasia was reported, and related literature was reviewed. RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupAp.(Val179fs) was identified to be a new frameshift mutation by gene analysis.
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.
