DeCure for Congenital bilateral aplasia of vas deferens from CFTR mutation
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital bilateral aplasia of vas deferens from CFTR mutation — 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 moduleCongenital bilateral aplasia of vas deferens from CFTR mutation 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 congenital bilateral aplasia of vas deferens from cftr mutation 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
Congenital bilateral aplasia of the vas deferens (CBAVD) is strongly linked to mutations in the CFTR gene, but the genetic picture is incomplete and varies by patient subgroup. In a 1998 study of 64 men from southern France, 65.6% had detectable mutations on both copies of the CFTR gene, and the 5T allele in intron 8 was present in 33% of cases. Six novel mutations were identified that appeared specific to CBAVD. A 2000 study of 47 men with various vas deferens anomalies (37 with CBAVD) found that 63.8% had two detectable CFTR mutations; the commonest were DeltaF508 (44.7% of chromosomes), the T5 allele (36.2%), and R117H (19.1%). Three novel mutations were also reported. Despite these advances, roughly a third of CBAVD patients in these cohorts had only one or no detectable CFTR mutation, meaning the molecular cause remains unknown in a substantial minority.
The relationship between CFTR mutations and renal anomalies is contradictory. A 1996 retrospective review of 104 men with congenital absence of the vas deferens (84 bilateral, 20 unilateral) found that 11% of bilateral and 26% of unilateral cases had renal agenesis. Crucially, no man with both vasal agenesis and renal anomalies had any CFTR mutation detected. This suggests that when the kidney is also affected, the cause is not CFTR-related, and that CBAVD with renal agenesis is a genetically distinct disorder.
Unilateral absence of the vas deferens is also heterogeneous. In a 1995 study of 21 infertile men with congenital unilateral absence, no CFTR mutations were found in the 12 men who had a completely patent vas on the contralateral side. In contrast, 8 of 9 men (89%) who had a non-iatrogenic occlusion of the contralateral vas carried a CFTR mutation. This indicates that only the subgroup with contralateral obstruction is CFTR-mediated, while isolated unilateral absence without obstruction is not.
What is still missing is a complete genetic explanation for the 30–40% of CBAVD patients who do not have two identifiable CFTR mutations, and for the subset with renal anomalies, where CFTR appears irrelevant. No therapy is described in these abstracts; the work is entirely diagnostic and genetic. Progress requires larger, ethnically diverse sequencing studies, functional validation of the many private mutations, and a clear separation of CFTR-dependent from CFTR-independent forms of vasal aplasia before any genetic screening or counselling can be reliably applied across populations.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Journal of Urology · 1996 · 196 citations
Urogenital Anomalies in Men with Congenital Absence of the Vas Deferens
AbstractPURPOSE: We evaluated urogenital anomalies in men with congenital absence of the vas deferens. METHODS AND MATERIALS: A retrospective review was done of 104 subfertile men with congenital absence of the vas deferens (84 bilaterally and 20 unilaterally). RESULTS: Of men with unilateral or bilateral congenital absence of the vas deferens 26 and 11%, respectively, had renal agenesis. Of men with unilateral congenital absence of the vas deferens and infertility 80% had genitourinary anamalies affecting the contralateral testis. No man with congenital absence of the vas deferens and renal anomalies had cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations detected. CONCLUSIONS: Other urogenital anomalies are common for men with congenital absence of the vas deferens. CFTR gene mutations frequently contribute to maldevelopment of the vas deferens but vasal agenesis can occur without any evidence of CFTR defects. CFTR abnormalities are rarely detected in men with congenital absence of the vas deferens and renal anomalies.
Immunology: Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene
AbstractA total of 21 infertile men with congenital unilateral absence of the vas deferens (CUAVD) were studied to determine if this disorder involves mutations in the cystic fibrosis (CF) gene. This hypothesis derives from previous work which has established the genetic commonality of CF and congenital bilateral absence of the vas deferens (CBAVD). Both CF and CBAVD may result from compound heterozygosity for CF mutations. In our patients with unilateral vasal aplasia, 12 had anatomically complete and patent vasa deferentia on the contralateral side, i.e. side of the scrotally palpable vas. No CF mutations were detected in this subgroup. The remaining nine patients had a non-iatrogenic occlusion of the contralateral vas at either the inguinal or pelvic level. In this subgroup, eight out of nine (89%) had a mutation detected in one of their two CF genes. This is the first study to define accurately the clinically and anatomically heterogeneous nature of CUAVD and to begin to clarify the genetic basis of unilateral absence of the vas deferens.
Molecular Human Reproduction · 2000 · 37 citations
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations
AbstractMany studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility. The genotype of these patients includes mutations in the CFTR gene, e.g. DeltaDeltaF508, R117H and the T5 allele; all of which are commonly found in CAVD. In this study we have screened the entirety of CFTR gene in 47 males with anomalies of the vas deferens: 37 cases of congenital bilateral absence of the vas deferens, three cases of congenital unilateral absence of the vas deferens and seven cases of obstructive azoospermia with hypoplastic vas deferens. Among the 94 chromosomes studied, 65 mutations, of which three are novel (2789+2insA, L1227S, 4428insGA), were identified. The majority of patients (63.8%) had two detectable CFTR gene mutations. Furthermore, high frequencies of the DeltaDeltaF508 mutation (44.7%), the T5 allele (36.2%) and R117H mutation (19.1%) were observed.
Research progress of cystic fibrosis transmembrane conductance regulator gene mutations in congenital bilateral absence of the vas deferens
Abstractcongenital bilateral absence of the vas deferens (CBAVD) is mainly caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene variations. The detection of CFTR variations have been used for preimplantation genetic diagnosis in western countries for avoiding CBAVD happened in offspring or carrying CFTR gene mutations. However, there are numerous kinds of variations in CFTR gene and they are closely related to race. Now we review the literature of CFTR gene progress in CBAVD as follow.
Key words:
Cystic fibrosis transmembrane conductance regulator (CFTR) gene; Congenital bilateral absence of the vas deferens (CBAVD); Variation
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.
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