DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for X-linked chondrodysplasia punctata 2 — 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 moduleX-linked chondrodysplasia punctata 2 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 x-linked chondrodysplasia punctata 2 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
X-linked chondrodysplasia punctata 2 (CDPX2, Happle syndrome) is caused by mutations in the EBP gene, which codes for sterol-delta(8)-delta(7) isomerase. The condition is recognised almost exclusively in females, who display mosaic and asymmetric features presumed to arise from random X-inactivation. One 2002 report describes a boy with clinical features of CDPX2 who was mosaic for a sterol-delta(8)-delta(7) isomerase gene mutation; he is described as the first reported example of single gene mosaicism giving rise to CDPX2 in a male.
A 2018 study of a six-year-and-ten-month old girl with non-symmetrical short stature, dysmorphism, limb and spine abnormalities, amblyopia of the left eye, cataract of the right eye, frequent respiratory infection, and micturition problems found a heterozygous EBP mutation c.184C>T (p.Arg62Trp). Her mother carried the same mutation and had short stature (138 cm); her aunt had short stature (130 cm) and limb-length discrepancy; her 2.5-year-old brother had height 81 cm (-3.4 SD) but did not carry the mutation. Laboratory testing showed 25-hydroxy vitamin D deficiency (18.9 ng/mL). A 2025 report describes a 7-year-old girl with severe scoliosis, hydronephrosis, and other skeletal abnormalities in whom exome sequencing identified a de novo EBP mutation c.452A>G (p.Gln151Arg). Both studies used exome sequencing and Sanger confirmation to diagnose CDPX2.
No drug treatment, clinical trial, or therapeutic intervention is mentioned in any of these abstracts. The reports are limited to describing clinical features and identifying genetic mutations. What is missing for any potential drug repurposing effort is a clear molecular target for intervention, any preclinical or clinical testing of compounds, and patient stratification beyond the known EBP mutation. Funding for basic research into the sterol isomerase pathway and for assembling a natural history cohort would be needed before any treatment hypothesis could be tested.
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 Part A · 2002 · 66 citations
X‐linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male
AbstractX-linked dominant chondrodysplasia punctata (CDPX2; Happle syndrome) is recognized almost exclusively in females, who display mosaic and asymmetric features, presumed to arise secondary to random X-inactivation. CDPX2 results from mutation of an X-linked gene coding for sterol-delta(8)-delta(7) isomerase (emopamil binding protein). We describe a boy with clinical features of CDPX2 (including those presumed to arise usually secondary to functional mosaicism in females). Biochemical and molecular studies demonstrate that he is mosaic for a sterol-delta(8)-delta(7) isomerase gene mutation. He is the first reported example of single gene mosaicism giving rise to CDPX2 in a male.
[Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].
AbstractOBJECTIVE: To analyze clinical manifestations and genetic mutation in a child with severe short stature and other malformations. METHODS: The child has undergone history taking and physical examination. Genome DNA was extracted from peripheral blood samples of the proband and her family members. Candidate genes were captured with Agilent SureSelect and sequenced on an Illumina platform. Suspected mutation was verified by Sanger sequencing. RESULTS: The patient, a six-year-and-10-month old girl, presented with non-symmetrical short stature, dysmorphism, abnormalities of limbs and spine, amblyopia of left eye, and cataract of right eye, in addition with frequent respiratory infection and micturition. Laboratory testing suggested 25-hydroxy vitamin D deficiency (18.9 ng/mL). Spine X-ray showed multiple malformations with centrums. Her mother also featured short stature (138 cm). Her aunt had short stature (130 cm) and limb-length discrepancy. Her little brother was 2.5 years old, and his height was 81 cm (-3.4 SD). Exome sequencing revealed a heterozygous mutation c.184C to T (p.Arg62Trp) in the proband and her mother. The same mutation was not found in her father and brother. CONCLUSION: The patient was diagnosed with X-linked chondrodysplasia punctata 2. Mutation of the EBP gene probably underlied the disease in this family.
The Application of Clinical Genetics · 2025 · 1 citations · open access
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi–Hünermann–Happle Syndrome Presenting with Hydronephrosis
AbstractBackground: Conradi–Hünermann–Happle syndrome (CDPX2, OMIM 302960) is an X-linked dominant inherited disorder caused by variants in the EBP gene, which primarily affects the skin, bones, and eyes. Objective: To describe the clinical manifestations and genetic mutation in a 7-year-old girl presenting with severe scoliosis, hydronephrosis, and other skeletal abnormalities. Methods: The patient’s medical history was collected from birth. Exome sequencing was performed to identify candidate genes, and the detected variant was confirmed by Sanger sequencing. Results: Exome sequencing revealed a de novo EBP mutation (c.452A>G, p.Gln151Arg) in the patient. Conclusion: The patient was diagnosed with X-linked chondrodysplasia punctata type 2 (CDPX2). This novel missense mutation expands the mutation spectrum of CDPX2 and underscores the clinical utility of exome sequencing in diagnosing this condition. Keywords: EBP, c.452A>G, p.Gln151Arg, exome sequencing, CDPX2
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.
