DeCure for Otospondylomegaepiphyseal dysplasia, autosomal dominant
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for otospondylomegaepiphyseal dysplasia, autosomal dominant — 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 moduleOtospondylomegaepiphyseal dysplasia, autosomal dominant 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 otospondylomegaepiphyseal dysplasia, autosomal dominant 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
collagen type II alpha 1 chain (COL2A1) — COL2A1 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 p33drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 5NIR · 1.74 Å · ligand 3,6,9,12,15,18-HEXAOXAICOSANE-1,20-DIOL (P33). Experimental structure, not a prediction.
What the evidence adds up to
Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare syndrome. One case report describes a woman followed to age 46, making her one of the oldest patients with the syndrome in the literature. Arthritis and joint pains began in her early adolescence and progressed to the point of requiring joint replacements by her twenties. Early intervention and monitoring improved quality of life for this patient. Another case report describes a 3-year-old Turkish girl born to consanguineous parents, with bilateral sensorineural hearing loss, frontal bossing, and strabismus, whose radiographic findings supported the diagnosis.
The syndrome is characterised by multiple skeletal anomalies, flat nasal bridge, mid-face hypoplasia, anteverted nostrils, and sensorineural hearing loss. One source states OSMED is an autosomal recessive condition (MIM 215150). The two other abstracts provided describe unrelated autosomal dominant dysplasias — progressive diaphyseal dysplasia and nasopalpebral lipoma-coloboma syndrome — and contain no information about OSMED.
No drug treatment is mentioned in any of these abstracts. What is missing is any trial of a pharmacological intervention, any evidence of disease-modifying therapy, and any systematic natural history study that could stratify patients by severity or progression rate. Without such data, no drug can be evaluated for this condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Bone and Joint Surgery · 1973 · 79 citations
Progressive Diaphyseal Dysplasia
AbstractSeven cases of progressive diaphyseal dysplasia in three generations of one family were observed and data presented. The affected grandfather had six children, all but one of whom are described as documented cases, the other being probably affected. One of the grandchildren is documented as a definite case and three of thirteen other grandchildren probably were affected. The characteristic features of the dysplasia are the roentgenographic appearance of bilaterally symmetrical diaphyseal cortical thickening and autosomal dominant inheritance.
AbstractAn autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.
AbstractCASE: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic interventions over her lifetime. CONCLUSION: OSMED is a very rare syndrome. Arthritis and joint pains presented in her early adolescence and progressed to the point of requiring joint replacements by her 20s. Early intervention and monitoring improved the quality of life for this patient.
Journal of Medical Cases · 2016 · 0 citations · open access
Clinical and Radiological Diagnosis of Rarely Seen OSMED Syndrome
AbstractOtospondylomegaepiphyseal dysplasia (OSMED) (MIM 215150) is an autosomal recessive syndrome. It is a skeletal dysplasia characterized by multiple skeletal anomalies, flat nasal bridge, mid-face hypoplasia, anteverted nostrils and sensorineural hearing loss. In this case report, we evaluated a 3-year-old Turkish girl born to consanguineous parents. She had a medical history of bilateral sensorineural hearing loss, frontal bossing and strabismus. The radiographic findings supported OSMED syndrome with her phenotype. Our aim was to facilitate the early diagnosis of this rarely seen syndrome and to contribute to the natural history of patients with OSMED syndrome. J Med Cases. 2016;7(5):161-163 doi: http://dx.doi.org/10.14740/jmc2431w
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.
