DeCure for Familial juvenile hyperuricemic nephropathy type 1
DeCure's autonomous Nephrology AI scientist is researching a drug-repurposing hypothesis for familial juvenile hyperuricemic nephropathy type 1 — screening already-approved drugs against its 3-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleFamilial juvenile hyperuricemic nephropathy type 1 maps to a 3-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 familial juvenile hyperuricemic nephropathy type 1 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
SEC61 translocon subunit alpha 1 (SEC61A1) — SEC61A1 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 6~{s},7~{s},9~{z},12~{r}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 8DO0 · 2.86 Å · ligand [(6~{S},7~{S},9~{Z},12~{R})-12-[(~{Z},2~{S},6~{R},7~{R},9~{R})-4,6-dimethyl-7,9-bis(oxidanyl)dec-4-en-2-yl]-7,9-dimethyl-2-oxidanylidene-1-oxacyclododec-9-en-6-yl] (2~{E},4~{E},6~{E},8~{E},10~{E},12~{S},13~{S},15~{S})-4,6,10-trimethyl-12,13,15-tris(oxidanyl)hexadeca-2,4,6,8,10-pentaenoate (Q6B). Experimental structure, not a prediction.
What the evidence adds up to
Familial juvenile hyperuricemic nephropathy type 1 is a rare autosomal dominant disorder defined by hyperuricemia with renal uric acid under-excretion, gout, and chronic kidney disease. In most but not all families the condition is linked to mutations in the uromodulin (UMOD) gene on chromosome 16p11-p13. A 2010 report described a novel heterozygous missense mutation (c.1382C>A causing p.Ala461Glu) in a 16-year-old Korean male with hyperuricemia, gout and chronic kidney disease; his father was also affected and the mutation segregated with disease. That was the first genetically confirmed case in Korea. A 2002 conference abstract reported mapping of the locus to chromosome 16p12 in six families, but no treatment data were provided.
Clinically, the presentation is insidious. A 1986 review of the related condition familial juvenile nephronophthisis noted that early symptoms of polyuria and polydipsia are often overlooked because urinalysis is relatively normal and proteinuria, azotemia and hypertension are absent; most patients are not diagnosed until after renal failure has developed. A 2016 case series of two families (7 affected members) with FJHN emphasised that standard nephrological diagnostics did not identify the cause of dialysis-dependent chronic kidney disease until genetic testing was performed. No intervention or outcome data were reported in that series.
No drug treatment, no repurposing candidate, and no clinical trial results appear in any of these abstracts. The literature is limited to genetic mapping, case reports of novel mutations, and descriptions of diagnostic delay. What is missing is any prospective trial, any biomarker for early detection before renal failure, any patient stratification by mutation type, and any funding for a treatment study. Without those, the natural history of progression to dialysis in young adulthood remains unchanged.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Clinical Pediatrics · 1986 · 26 citations
Familial Juvenile Nephronophthisis
AbstractFamilial juvenile nephronophthisis (FJN) is a frequent cause of chronic renal failure in children and adolescents. Typically it presents after 6 years of age through adolescence, but may become apparent in early childhood. The clinical presentation is insidious, and the early symptoms of polyuria and polydipsia are often overlooked in the presence of a relatively normal urinalysis and in the absence of proteinuria, azotemia, and hypertension. Thus most patients are not diagnosed until after the onset of renal failure. These children are excellent candidates for properly selected transplantation.
Journal of Korean Medical Science · 2010 · 20 citations · open access
A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
AbstractFamilial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not all families with FJHN, genetic studies have revealed mutations in the uromodulin (UMOD) gene located on chromosome 16p11-p13. We here described a novel heterozygous missense mutation (c.1382C>A causing p.Ala461Glu) in an affected 16-year-old male with hyperuricemia, gout and chronic kidney disease. His father was also affected and the UMOD mutation was found to segregate with the disease. There has been only one case report of Korean family with FJHN, which has not been diagnosed by genetic study. This is the first report of genetically diagnosed FJHN in Korea.
Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease—a series of cases in two families
AbstractHyperuricemia is a common symptom in adult population. It usually accompanies the chronic kidney disease. Less frequently, it is a primary phenomenon causing later serious clinical consequences. Familial juvenile hyperuricemic nephropathy (FJHN) is one of the hereditary conditions associated with high levels of serum uric acid and leading to dialysis in young adult age. It results from mutation in the UMOD gene, encoding the uromodulin protein, that is, Tamm-Horsfall protein. The aim of this paper was to present two families (7 affected members) with FJHN, in whom standard nephrological diagnostics did not provide clear cause of dialysis-dependent chronic kidney disease, until genetic testing was performed.
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.
