Rare & Orphan Lab · DeCure for X

DeCure for Multiple epiphyseal dysplasia

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for multiple epiphyseal dysplasia — screening already-approved drugs against its 12-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module12 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:12721$DeCureRare

The disease map

Disease moduleMultiple epiphyseal dysplasia maps to a 12-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 multiple epiphyseal dysplasia 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

calcium activated nucleotidase 1 (CANT1)CANT1 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 gp2drag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 1S1D · 1.6 Å · ligand PHOSPHOMETHYLPHOSPHONIC ACID GUANOSYL ESTER (GP2). Experimental structure, not a prediction.

What the evidence adds up to

Multiple epiphyseal dysplasia is a group of heterogeneous disorders defined by defective or excessive bone formation in the secondary ossification centres of the tubular bones and sometimes the vertebrae. The pathogenesis is unknown. Most cases are caused by the action of mutant genes. Differentiation of the various entities within this group is considered essential for proper management and genetic counselling.

A family study across three generations found evidence of multiple epiphyseal dysplasia with an autosomal dominant mode of inheritance. The family was characterised by premature osteoarthrosis of the hips developing in adolescence or early adulthood. In most patients there were no obvious signs of an underlying anomaly, and the diagnosis was not recognised for a long time. Eventual diagnosis allowed easy genetic counselling.

The condition was first described by Fairbank in 1947 and is characterised by dwarfism, stubby digits, and mottling or irregularity in density and outline of the developing epiphyses on roentgenograms. A single case report describes a four-year-old female with multiple epiphyseal dysplasia showing severe slipping of the capital femoral epiphysis. Three cases of dysplasia epiphysealis hemimelica, a related disorder, are also reported; the authors stress that treatment must be individualised depending on the amount of deformity and pain.

What is still missing is any controlled trial of a drug or other intervention for multiple epiphyseal dysplasia. No molecular target has been identified in these abstracts, no patient stratification beyond the clinical and radiographic description exists, and no funding for a treatment trial is mentioned.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Clinical Orthopaedics and Related Research · 1976 · 40 citations

The Epiphyseal Dysplasias

AbstractThe epiphyseal dysplasias are a group of heterogeneous disorders characterized by defective or excessive bone formation in the secondary ossification centers of the tubular bones and sometimes the vertebrae. Most of them are caused by the defective action of mutant genes. Their pathogenesis is unknown. Differentiation of the various entities in this group is essential for the proper management and genetic counseling of the patients.

https://doi.org/10.1097/00003086-197601000-00007
Lara D. Veeken · 1979 · 6 citations

MULTIPLE EPIPHYSEAL DYSPLASIA: A FAMILY STUDY

AbstractThree generations of a single family exhibited evidence of multiple epiphyseal dysplasia. The distribution of involvement was entirely consistent with an autosomal dominant mode of inheritance. The family was characterized by premature osteoarthrosis of the hips developing in adolescence or early adulthood. In most patients there were no obvious signs of an underlying anomaly and the diagnosis was not recognized for a long time. Eventual diagnosis of the disorder allowed easy genetic counselling.

https://doi.org/10.1093/rheumatology/18.4.239
Orthopedics & Traumatology · 1984 · 0 citations · open access

AbstractMultiple epiphyseal dysplasia, first described by Fairbank (1947), is characterised by dwarfism, stubby digits and mottling or irregularity in density and outline of the developing epiphyses on the roentgenograms. We report a 4-year-old female case of multiple epiphyseal dysplasia showing severe slipping of the capital femoral epiphysis.

https://doi.org/10.5035/nishiseisai.32.295
Orthopedics & Traumatology · 1973 · 0 citations · open access

Dysplasia Epiphysealis Hemimelica; Report of Three Cases

Abstract1. Three cases of dysplasia epiphysealis hemimelica are reported and the literature is briefly reviewed.2. The course of these cases is described and discussed.3. It is stressed that the treatment of this disease must be individualized depending on the amount of deformity and pain.

https://doi.org/10.5035/nishiseisai.22.336

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.