DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for chondrodysplasia punctata — 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 moduleChondrodysplasia punctata 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 chondrodysplasia punctata 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
EBP cholestenol delta-isomerase (EBP) — EBP 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 2-diethylaminoethoxydrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6OHT · 3.2 Å · ligand 3beta-(2-Diethylaminoethoxy)androst-5-en-17-one (MKM). Experimental structure, not a prediction.
What the evidence adds up to
Chondrodysplasia punctata (CDP) is not a single disease but a radiographic finding associated with several distinct disorders, including inborn errors of metabolism affecting peroxisomal and cholesterol pathways, embryopathy, and chromosomal abnormalities. A 2008 review provides an updated aetiological classification and an investigative guideline for determining the exact diagnosis in new cases, but it does not report any treatment or outcome data.
The rhizomelic form is a lethal, probably autosomal-recessive genopathy. A 1971 paper describes its radiographic hallmarks: symmetrical severe shortening of femur and/or humerus, marked metaphyseal ossification disturbances, epiphyseal and extra-epiphyseal calcification foci in the first year of life, vertical systemic ossification clefts of the vertebral bodies, and trapezoid dysplasia of the iliac wings. These features are unique to this form and distinguish it from the Conradi-Hünermann type. The paper assigns 33 literature cases and 9 own observations to the rhizomelic type, but provides no survival statistics or treatment information.
A 2003 case report describes a 52-day-old child with rhizomelic chondrodysplasia punctata presenting rhizomelic micromelia, characteristic facies, suction difficulty, and anthropometric measures below expected. Radiographs showed humeral and femoral shortening and stippled calcifications at shoulders, hips, and knees. The patient also had a heart malformation, described as a less common manifestation. The authors state that only 72 cases had been reported by 1995, that prognosis is bad, and that death usually occurs within the first year of life. Diagnosis was made on clinical and radiological criteria because biochemical markers could not be tested. No treatment or intervention is reported.
A 1972 report of two cases describes a girl aged 8 months with slight shortening of the right lower extremity, and a girl aged 2 years 9 months with unilateral shortening of the left extremities and slightly limited elbow movement. No treatment, survival data, or biochemical confirmation is provided. What remains missing for any therapeutic trial in chondrodysplasia punctata is a clear, genetically or biochemically defined patient stratification, any evidence of a modifiable disease mechanism in humans, and the funding to move from case description to prospective study.
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 Dysmorphology · 2008 · 104 citations
Chondrodysplasia punctata: a clinical diagnostic and radiological review
AbstractChondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.
RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren · 1971 · 22 citations
Chondrodysplasia punctata (Chondrodystrophia calcificans) II. Der rhizomele Typ<sup>*</sup>
AbstractDie rhizomele Form der Chondrodysplasia punctata ist eine letale, wahrscheinlich autosomal-rezessiv vererbte Genopathie mit folgenden röntgenologischen Merkmalen: 1. Symmetrische, schwere Verkürzung von Femur und/oder Humerus. 2. Ausgeprägte metaphysäre Ossifikationsstörungen. 3. Epiphysäre und extraepiphysäre Verkalkungsherde im ersten Lebensjahr, spätere epiphysäre Ossifikationsanomalien. 4. Vertikale, systemhafte Ossifikationsspalten der Wirbelkörper. 5. Trapezförmige Dysplasie der Beckenschaufeln. Die Merkmale 1, 2, 4 und 5 werden nur bei dieser Form der Chondrodysplasia punctata angetroffen. Ihre Differenzierung von der Conradi-Hünermannschen Form der Chondrodysplasia punctata ist aus pathogenetischen, prognostischen und genetischen Gründen erforderlich. Dem rhizomelen Typ der Chondrodysplasie punctata werden 33 Literaturfälle und 9 eigene Beobachtungen zugeordnet.
Jornal de Pediatria · 2003 · 11 citations · open access
Condrodisplasia puntiforme forma rizomélica: relato de caso
AbstractOBJECTIVE: To report a case of rhizomelic chondrodysplasia punctata and present a brief literature review. DESCRIPTION: The authors report the case of a 52-day-old child presenting the main findings of the syndrome: rhizomelic micromelia, characteristic facies, suction difficulty and anthropometric measures below the expected indexes for his age. Skeletal radiographies showed humeri and femora shortening and calcifications stippling on shoulders, hips and knees joints. The patient also presented heart malformation, a less common manifestation of the syndrome. COMMENTS: The rhizomelic form of chondrodysplasia punctata is rare, with only 72 cases reported until 1995. The prognosis is bad and death usually occurs within the first year of age. The case presented here was diagnosed based on clinical and radiological criteria, due to the impossibility of searching for the peculiar biochemical markers.
Abstract1. Radiological examinations were described in two cases of chondrodysplasia punctata.2. Case 1. A girl, aged 8 months, showed only a slight shortening of the right lower extremity.3. Case 2. A girl, aged 2 years and 9 months, had unilateral shortening of the left extremities. The left elbow joint showed a slightly limited range of movement.
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.
