DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for campomelic dysplasia — 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 moduleCampomelic dysplasia 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 campomelic 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
SRY-box transcription factor 9 (SOX9) — SOX9 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4EUW · 2.77 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Campomelic dysplasia is a skeletal condition that causes deformities of the limbs, pelvis, shoulders, ribcage and palate. Respiratory failure often kills affected infants early. No cause was known in 1991, but one patient with a typical case carried a new paracentric inversion on chromosome 17q. The inverted region contained the Hox-2 homeobox gene and the collagen gene COL1A1, which were proposed as possible contributors. A 2000 report described a patient with the rare acampomelic variant, which lacks the usual long-bone curvature; that patient had a de novo missense mutation in SOX9. The report followed the child to age one year but gave no survival or response numbers.
A 1984 case report followed a girl with classic campomelic dysplasia to age 6.5 years. She had severe respiratory problems throughout infancy and childhood. She was treated with a Pavlik harness for hip subluxation, required two cervical and two thoracic posterior spinal fusions, surgery for complex foot deformities, and a right tibial osteotomy. Perioperative complications were significant. At 6.5 years her height and weight matched those of a 2.5-year-old, and her bone age was 3.5 years. She attended first grade at a regular school. The report states the prognosis is guarded but that some survivors may benefit from careful orthopaedic care.
No drug treatment is mentioned in any of these abstracts. The evidence consists of case reports and a cytogenetic observation, not controlled trials. What is missing is any systematic trial design, any patient stratification by genotype, and any funding for therapeutic development.
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 Medical Genetics · 2002 · 135 citations · open access
The phenotype of survivors of campomelic dysplasia
AbstractFive patients with campomelic dysplasia who have survived (age range 7 to 20 years) are described, all of whom have molecular or cytogenetic evidence of campomelic dysplasia. The phenotype and radiological features of these cases are consistent. Complications in this group include recurrent apnoea and upper respiratory infections, progressive kyphoscoliosis, mild to moderate learning difficulties, short stature, and dislocation of the hips. All five had very similar facial features. The radiological features include hypoplastic scapulae, defective ischiopubic ossification, absent or hypoplastic patellae, and spinal dysraphism.
Campomelic dysplasia (CMD) is a rare skeletal dysplasia resulting from mutations in SOX9. It is usually lethal in the first year of life. Three-quarters of the cases with a male karyotype have complete or partial sex reversal.1 The skeletal changes in the neonatal period are well recognised and include hypoplastic scapulae, bowing of the long bones, vertical narrow iliac bones, and absence of ossification of the thoracic pedicles.
The case histories of five children who share a number of clinical and radiological features are presented.
### Case 1
A mother was diagnosed at the age of 18 years after giving birth to a daughter with the classical features of campomelic dysplasia.2
The daughter had shortening of all four limbs, tibial bowing, with skin dimpling over the apex of each tibia. There was bilateral talipes equinovarus and relative macrocephaly (head circumference on the 50th centile, length <3rd centile). She had micrognathia and a depressed nasal bridge. The karyotype was normal female. She had the classical radiological features of campomelic dysplasia with hypoplastic scapulae and absent pedicles in the mid-thoracic region, 11 pairs of ribs, shortening of the long bones with bowing, narrow iliac bones with dislocation of the hips, short first metacarpals, and short phalanges in the hands and feet.2 She died of respiratory problems in …
A chromosome 17q <i>de novo</i> paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis
AbstractThe campomelic syndrome is a skeletal dysplasia with a characteristic pattern of deformity involving the proximal and distal extremities, pelvic and shoulder girdles, thoracic cage and palate. Respiratory compromise often leads to death in early infancy. Etiology has not been determined although evidence suggests genetic heterogeneity in patients with campomelia. Cytogenetic analysis in the past have revealed an unexpectedly high incidence of a 46, XY karyotype in phenotypic females. We report here on a patient with a typical case of campomelic dysplasia in whom a de novo paracentric inversion of chromosome 17q was identified. Review of the genetic map of the inverted region identified potential "structural" genes including the Hox-2-homeobox gene and the collagen gene, COLIA1, which may be involved in the pathogenesis of campomelic syndrome.
Acampomelic campomelic dysplasia with SOX9 mutation.
AbstractAcampomelic campomelic dysplasia is a rare clinical variant of the more commonly encountered campomelic dysplasia (CMD1), characterized by absence of long bone curvature (acampomelia). We present a patient with acampomelic CMD1 with a de novo SOX9 missense mutation and report his clinical course to age one year, thereby contributing to genotype-phenotype correlation in CMD1. 2000.
Clinical Orthopaedics and Related Research · 1984 · 14 citations
Orthopaedic Problems Associated with Survival in Campomelic Dysplasia
AbstractIn the early part of this century sporadic reports of campomelic dysplasia appeared in the literature, along with reports of other entities, under the term “congenital bowing of the long bones.” In 1970 Spranger et al. considered campomelic dysplasia a distinct entity. The terms “camptomelic” and “campomelic” have been used interchangebly in the literature since that time. The patient in the present report is a 6 1/2-year-old white girl with classic long-limbed campomelic dysplasia. The patient has had severe respiratory problems throught her life. As an infant she was treated by a Pavlik harness for subluxation of the hips. She later required two cervical and two thoracic posterior spinal fusions, as well as release of complex foot deformities and osteotomy of the right tibia. Perioperative complications have been significant. Currently, her height and weight are those of a 2 1/2-year-old child, and she has the bone age of a 3 1/2-year-old child. Nevertheless, she is in first grade at a regular school. Certainly, the prognosis for patients with campomelic dysplasia is guarded, but some survivors may be helped by judicious orthopedic care.
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.
