DeCure for Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome — 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 moduleChoanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 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 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism 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.
What the evidence adds up to
In a 2003 review of 31 cases of choanal atresia, 19 patients had other congenital anomalies. Among the 20 patients with bilateral choanal atresia, 75% had additional defects, compared with 36% of the 11 patients with unilateral choanal atresia. The associated defects followed the CHARGE pattern: coloboma, heart disease, choanal atresia, retarded growth, genital hypoplasia, and ear defects.
A 1979 study of four cases of bilateral congenital choanal atresia found that three (75%) had congenital nerve deafness confirmed by electric response audiometry, and two had other congenital anomalies. The authors noted that early diagnosis and surgical correction of choanal atresia can prevent neonatal death from asphyxia, but that after surgery additional anomalies must be sought and treated.
A 2012 review estimated that hereditary hearing loss accounts for 60% of deafness in developed countries, and that about 30% of hereditary hearing impairment is syndromic, involving other abnormalities. More than 400 syndromes include hearing impairment with different phenotypes. Craniofacial malformations, dental abnormalities, ocular abnormalities, renal defects, cardiac abnormalities, endocrine dysfunction, neurologic dysfunction, skeletal abnormalities, integumentary abnormalities, metabolic disease, and chromosomal abnormalities have all been associated with syndromic hearing loss.
No abstract provides data on any drug treatment for choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome. What is missing is any clinical trial, any pharmacological intervention tested in these patients, any molecular or genetic characterisation of the syndrome as a distinct entity, and any funding for such work.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Lappeenrannan teknillinen yliopisto eBooks · 2003 · 7 citations · open access
Isentropic exergy and pressure of the shock wave caused by the explosion of a pressure vessel
AbstractOver the past few years there has been increasing awareness of the association of choanal atresia with other congenital defects. Thirty-one cases of choanal atresia were reviewed and other congenital anomalies were documented in 19 patients. These other anomalies were identified in 75% of the 20 patients with bilateral choanal atresia but in only 36% of the 11 patients with unilateral choanal atresia. Associated defects largely occurred in a predictable pattern described by the CHARGE mnemonic: C-coloboma, H-heart disease, A-atresia choanae, R-retarded growth, G-genital hypoplasia, E-ear defects. The implications of the CHARGE association in the management of patients with choanal atresia are discussed.
The Journal of Laryngology & Otology · 1979 · 6 citations
Congenital choanal atresia and nerve deafness
AbstractFour cases of bilateral congenital choanal atresia are presented. Three of them (75 per cent) were shown by Electric Response Audiometry (ERA) tests to have, in addition, congenital nerve deafness; and two had other congenital anomalies. Thus, congenital nerve deafness should be considered as a possible congenital anomaly associated with choanal atresia. Early diagnosis and treatment of congenital choanal atresia can prevent death from asphyxia during the neonatal period, but after surgical correction of the atresia the possible existence of additional anomalies has to be determined and treated. By the use of electric response audiometry we are able to detect sensorineural hearing loss during the neonatal period and can plan the rehabilitation of deaf infants.
Genetic Hearing Loss Associated with Craniofacial Abnormalities
AbstractIt is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes. Abnormalities of different systems or suggestive clinical findings have been associated with syndromic hearing loss. These include craniofacial malformations, dental abnormalities, ocular abnormalities, renal defects, cardiac abnormalities, endocrine dysfunction, neurologic dysfunction, skeletal abnormalities, integumentary abnormalities, metabolic disease, chromosomal abnormalities.
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.
