DeCure's autonomous Nephrology AI scientist is researching a drug-repurposing hypothesis for familial renal glucosuria — 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 moduleFamilial renal glucosuria 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 familial renal glucosuria 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
SMAD family member 4 (SMAD4) — SMAD4 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 pgedrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9HZA · 2.03 Å · ligand TRIETHYLENE GLYCOL (PGE). Experimental structure, not a prediction.
What the evidence adds up to
Familial renal glucosuria is caused by mutations in the SLC5A2 gene, which encodes the sodium–glucose cotransporter 2. A 2021 case report describes a six-year-old girl with an incidental finding of glucosuria, no symptoms, and normal laboratory tests aside from glucose in the urine; genetic testing revealed a homozygous missense mutation in SLC5A2. The authors state that the long-term outcome for patients with familial renal glucosuria is very good, with no recorded mortality. A 2025 case report describes a well-thriving infant with recurrent fevers and urinary tract infections, persistent glucosuria despite normal blood glucose, and no structural kidney abnormalities; whole-exome sequencing identified novel compound heterozygous variants in SLC5A2. That report notes that familial renal glucosuria is a rare, benign tubular disorder with no specific treatment, and management focuses on preventing and treating associated urinary tract infections.
A 2006 study examined prednisone and cyclophosphamide in eight patients with autosomal dominant familial focal segmental glomerulosclerosis (FSGS1), a different disease from familial renal glucosuria. None of the patients with idiopathic FSGS reached end-stage renal failure during two years of follow-up. The abstract does not provide comparable outcome data for the treated familial FSGS1 patients, and it notes that previous studies showed steroid unresponsiveness or variable response to steroids, cyclophosphamide and ACE inhibitors in familial FSGS. This treatment regimen is not relevant to familial renal glucosuria.
No drug treatment for familial renal glucosuria itself is described in any of these abstracts. What remains missing is any trial of a drug intended to modify the course of familial renal glucosuria, any evidence that SGLT2 inhibition (the mechanism affected by the mutations) could be therapeutically targeted in this population, and any systematic data on the frequency or severity of urinary tract infections in larger cohorts. Patient stratification by mutation type and long-term follow-up for renal function in adults with FRG are also absent.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
AbstractFamilial FSGS is a heterogeneous disease characterized by proteinuria and an unremitting deterioration of the excretory function. FSGS 1 is a less severe form of familial FSGS with autosomal-dominant inheritance, adult onset and slow progression to end-stage renal failure. Previous studies showed steroid unresponsiveness or variable response to steroids, cyclophosphamide and ACE inhibitors, and low rate of recurrence after transplantation. We treated with steroids/cyclophosphamide 8 patients (3 families) with FSGS1 (aged 24±3,11) and compared the results to 20 patients with idiopathic FSGS (aged 35±2), and 6 untreated patients with familial form. The treatment included prednisone 0,5mg/kg/daily for 4 months with slow tapping over to 20mg daily for further 6 months and cyclophosphamide 50mg daily 6 months, alternate use after. The follow-up period was two years. None of the patients with idiopathic FSGS experienced endstage renal failure during follow-up (serum creatinine
DOAJ (DOAJ: Directory of Open Access Journals) · 2021 · 1 citations · open access
A novel mutation in the SLC5A2 gene causing benign renal glucosuria
AbstractGlucosuria is defined as a detectable amount of glucose levels in urine. It can be isolated or associated with other pathologies. In the presence of glucosuria in children and adolescents, it is important to perform an etiological study to exclude these conditions. Isolated renal glucosuria is a rare tubular disorder characterized by glucosuria without hyperglycemia or other glucose metabolism disorders. The inherited form of this disorder is called Familiar Renal Glucosuria (FRG). This is a rare condition caused by mutations in the SLC5A2 gene (that encodes SGLT-2), which are responsible for the majority of cases. The long-term outcome of patients with FRG is very good, with no recorded mortality. The authors report a case of a 6-year-old girl with glucosuria that was found incidentally, without any symptoms or abnormalities in physical examination. Laboratory tests and urinalysis were normal, despite the presence of glucose in urine. The genetic test showed homozygotic missense mutation in the SLC5A2 gene. With this case report, the authors would like to alert to this entity and to highlight the importance of pediatric renal glucosuria management and differential diagnosis.
Sweet clues in the urine: novel compound heterozygous <i>SLC5A2 variants</i> causing familial renal glucosuria presenting as recurrent urinary tract infections in an infant
AbstractWe present a case of a well-thriving infant, who was evaluated for recurrent fever over the past 4 months. History and prior investigations revealed recurrent urinary tract infections (UTIs). A comprehensive workup for recurrent UTIs showed no structural abnormalities of the kidneys or urinary tract. Even after resolved UTIs, the child had persistent glucosuria despite normal blood glucose levels, suggesting a possible tubular disorder. Further evaluation was negative for generalised tubular dysfunction. Whole-exome sequencing (WES) identified novel compound heterozygous variants in the SLC5A2 gene , which encodes the sodium–glucose cotransporter 2, confirming a diagnosis of familial renal glucosuria (FRG). FRG is a rare, benign tubular disorder with no specific treatment; management primarily focuses on preventing and treating associated UTIs. Comprehensive genetic counselling is essential. This case underscores the importance of recognising isolated glucosuria as a potential indicator of an underlying genetic tubular disorder.
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.
