DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bartter syndrome — screening already-approved drugs against its 6-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleBartter syndrome maps to a 6-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 bartter 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.
Molecular view
solute carrier family 12 member 3 (SLC12A3) — SLC12A3 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 y01drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7Y6I · 2.85 Å · ligand CHOLESTEROL HEMISUCCINATE (Y01). Experimental structure, not a prediction.
What the evidence adds up to
A 2018 report on two children with Bartter syndrome type 3 (CLCNKB mutations) described comprehensive therapy with ibuprofen, antisterone, captopril, and potassium as remarkably effective. In one child with a compound heterozygous CLCNKB mutation, ibuprofen appeared to partly overcome growth retardation. The authors stated that Bartter syndrome can be ameliorated by electrolyte supplementation, prostaglandin synthetase inhibitors, angiotensin-converting enzyme inhibitors, and potassium-sparing diuretics, and that early diagnosis and treatment are critical because the syndrome requires lifelong treatment and associated phenotypes include electrolyte disturbances, infections, growth retardation, kidney failure, and even death. No other drug is mentioned in the abstracts.
A 2000 study refined the locus for antenatal Bartter syndrome with sensorineural deafness to a 4.0 cM interval on chromosome 1p31 by haplotype analysis in nine consanguineous families. This confirmed a distinct clinical subtype. A 2023 systematic review of case reports and case series noted that five different types of Bartter syndrome have been identified, but it provided no new drug data, no pooled response rates, and no survival figures.
The evidence for any drug in Bartter syndrome is limited to a single 2018 report on two patients. No randomised trial, no controlled comparison, and no long-term outcome data beyond two and six years of follow-up exist in these abstracts. What is missing is a properly powered trial, standardised outcome measures, and any stratification by genotype or age at diagnosis.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31
AbstractBACKGROUND: Recently a locus for antenatal Bartter syndrome associated with sensorineural deafness was mapped to human chromosome 1p31 in a single consanguineous Bedouin family (Brennan et al. Am J Hum Genet 1998; 62: 355-361). METHODS: By haplotype analysis we demonstrate linkage to this locus in nine consanguineous families with antenatal Bartter syndrome associated with sensorineural deafness. RESULTS: The critical interval compatible with linkage was refined to 4.0 cM by two novel recombinational events with markers D1S2661 and D1S475. CONCLUSION: We thereby confirmed this gene locus and distinguished this clinical subtype from other variants of Bartter syndrome as a new disease entity.
Frontiers in Pediatrics · 2018 · 12 citations · open access
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen
AbstractObjective To identify the causative mutations and investigate phenotype-genotype correlations in two children diagnosed with Bartter syndrome type 3. Methods Phenotype and genotype data from two patients were analyzed and indicated continuous abnormal electrolyte disturbance, metabolic alkalosis, and growth retardation. Their progress was compared after follow-up for different periods (6 and 2 years in each case). Results Mutation analysis of CLCNKB revealed that one patient carried compound heterozygous mutations in this gene including a transition (A to G) at the -2 position of the splicing acceptor site of intron 12 (NM_000085.4:C.1228-2A>G), which may result in abnormal splicing of exon 12, and a loss of exons 1–18 (NM_000085.4: Ex1_18 del), while the other had a homozygous deletion (NM_000085.4: Ex1_18 del) inherited from consanguineous parents. Comprehensive therapy with ibuprofen, antisterone, captopril, and potassium was remarkably effective in treating the patients, and ibuprofen appeared to partly overcome growth retardation in the case with compound heterozygous mutation of CLCNKB. Conclusion Bartter syndrome should be considered as a diagnosis for children with continuous abnormal electrolyte disturbance, metabolic alkalosis, and growth retardation. The clinical features of this genetic disease depend on the type of underlying mutation. Bartter syndrome can be ameliorated by electrolyte supplementation, prostaglandin synthetase inhibitors, angiotensin-converting enzyme inhibitors, and potassium-sparing diuretic. As associated phenotypes include electrolyte disturbances, infections, growth retardation, kidney failure, and even death, Bartter syndrome requires lifelong treatment, and early diagnosis and treatment are critical.
Kidney International Reports · 2023 · 0 citations · open access
WCN23-0181 CLINICAL PRESENTATION, EPIDEMIOLOGY, MANAGEMENT, AND FOLLOW-UP FOR PATIENTS DIAGNOSED WITH BARTTER SYNDROME: A SYSTEMATIC REVIEW OF CASE REPORTS AND CASE SERIES
AbstractBartter syndrome (BS) is a relatively new and rare inherited disease identified as autosomal recessive in nature and characterized by a defect in transport mechanisms in the thick ascending loop of Henle. It usually manifests as a hypokalemic metabolic alkalosis with occasional hypochloremic and hyponatremic presentations. BS is associated with a wide range of signs and symptoms. To date, five different types of BS have been identified. This systematic review was conducted to evaluate the clinical presentation, epidemiology, management, and follow-up of BS patients reported worldwide.
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.
