DeCure for Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome — 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 moduleCamptodactyly-arthropathy-coxa-vara-pericarditis syndrome 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 camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 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
translocated promoter region, nuclear basket protein (TPR) — TPR 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 5TO5 · 2.5 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition caused by truncating mutations in the megakaryocyte stimulating factor gene on chromosome 1q25-q31. In a 2000 study of 12 patients from 8 unrelated families, linkage studies supported genetic homogeneity despite clinical variability. A 58-year-old patient in that series illustrated progressive hip and spine involvement over the disease course. A 2004 case report described a 10-year-old boy with typical features and no family history. In 2021, three female patients from two consanguineous families in southern Turkey were reported; all had camptodactyly from infancy, two had hip changes, and two had undergone surgery for camptodactyly. Two of these three had previously been misdiagnosed with juvenile idiopathic arthritis and received unnecessary medication. Routine echocardiographic evaluations were normal during two years of follow-up.
The syndrome is characterised by congenital or early-onset camptodactyly and childhood-onset noninflammatory arthropathy with synovial hyperplasia. Some patients develop progressive coxa vara deformity or noninflammatory pericardial or pleural effusions. The 2021 report noted that pericardial effusion is rare in CACP. No drug treatment is described in any of these abstracts. The 2021 authors stated there is an ongoing need for an effective treatment focusing on lubrication of the joint space.
What is still missing is any clinical trial of a drug for CACP, any evidence that existing medications alter the course of the arthropathy, and any validated patient stratification beyond the known genetic homogeneity. No study has tested a lubricant or any other agent in patients. The main gap is a funded, controlled trial designed around joint function or effusion endpoints.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
American Journal of Medical Genetics · 2000 · 34 citations
Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome
AbstractThe camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions have been observed in some patients. Recently, the disease gene has been assigned to human chromosome region 1q25-q31, and truncating mutations have been identified in the megakaryocyte stimulating factor gene. Studying 12 patients from 8 unrelated families, we emphasized hip and spine involvement, particularly in the course of the disease as shown in a 58-year-old patient. Despite clinical variability, linkage studies support genetic homogeneity of the disease.
Journal of Korean Medical Science · 2004 · 28 citations · open access
Camptodactyly, Arthropathy, Coxa vara, Pericarditis (CACP)Syndrome: A Case Report
AbstractThe camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is characterized by congenital or early-onset camptodactyly, childhood-onset noninflammatory arthropathy associated with synovial hyperplasia. Some patients have progressive coxa vara deformity and/or noninflammatory pericardial effusion. CACP is inherited as an autosomal recessive mode and the disease gene is assigned to a 1.9-cM interval on human chromosome 1q25-31. We describe a 10-yr-old boy who has typical features of CACP without familial association.
Molecular Syndromology · 2021 · 23 citations · open access
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey
Abstractgene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.
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.
