DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Gitelman syndrome — screening already-approved drugs against its 7-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleGitelman syndrome maps to a 7-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 gitelman 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
alpha-L-iduronidase (IDUA) — IDUA 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 1~{r},2~{r},3~{r},4~{s},6~{s}drag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6I6R · 2.02 Å · ligand (1~{R},2~{R},3~{R},4~{S},6~{S})-6-azanyl-2,3,4-tris(oxidanyl)cyclohexane-1-carboxylic acid (H62). Experimental structure, not a prediction.
What the evidence adds up to
Gitelman syndrome is a rare disease that is easy to misdiagnose or miss because of diverse clinical symptoms. A 2021 Chinese expert consensus summarises progress in clinical phenotypes, new classifications, modified functional tests, biomarkers, and management experience, and provides a reference for diagnosis, treatment, and management of chronic complications and comorbidity. A 2017 case report describes a girl with long-term hypokalemia, intermittent lower limb muscle pain, and physical retardation; laboratory tests confirmed severe hypokalemia and metabolic alkalosis, and gene sequencing identified an SLC12A3 gene mutation. The report states that gene therapy is expected to be the most effective treatment, but no such therapy is described.
A 2025 case describes a 14-year-old male admitted for lower extremity weakness, with potassium at 1.90 mmol/L, magnesium at 0.65 mmol/L, and metabolic alkalosis. Genetic testing found a heterozygous SLC12A3 gene mutation (c.497C>T, p.Ala166Val) inherited from his mother; the father did not carry it. The patient’s height was 148 cm (below the third percentile, -2.49 SD), and a growth hormone stimulation test indicated growth hormone deficiency. After multidisciplinary consultation, diagnoses were Gitelman syndrome and growth hormone deficiency. Oral spironolactone was given for potassium retention, and subcutaneous recombinant human growth hormone was recommended. The patient’s condition improved, and regular follow-up was advised. The authors note that Gitelman syndrome combined with growth hormone deficiency is rare.
A 2023 report of the first child with Gitelman syndrome in Macau describes a normotensive child with hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemia, and hypocalciuria, and an SLC12A3 gene mutation was detected. The report states that in any child with persistent hypokalemia, establishing the cause is crucial, and genetic testing is cardinal when the clinical diagnosis is presumed. Across these reports, no controlled trials, no randomised comparisons, and no long-term outcome data are provided. What is still missing are prospective studies with adequate sample sizes, standardised treatment protocols, and systematic follow-up to assess whether interventions such as spironolactone or growth hormone alter the natural history of the disease.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
DOAJ (DOAJ: Directory of Open Access Journals) · 2021 · 1 citations · open access
Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)
AbstractIn recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this consensus summarizes aspects related to GS, including clinical manifestations and classification, diagnosis, treatment strategies, and management of chronic complications and comorbidity. This consensus provides an important reference for the diagnosis and treatment of GS.
[A case of Gitelman syndrome with physical retardation].
AbstractGitelman syndrome is a rare disease. It is easy to be misdiagnosed and missed diagnosis due to the diverse clinical symptoms. A girl with long-term hypokalemia, who presented with intermittent pain of lower limb muscle and physical retardation, was treated in Xiangya Hospital, Central South University. Laboratory examination confirmed the severe hypokalemia and metabolic alkalosis. Gene sequencing indicated SLC12A3 gene mutation and the patient was finally diagnosed as Gitelman syndrome. Patients with chronic hypokalemia and metabolic alkalosis need to conduct gene sequencing to confirm the diagnosis. Gene therapy is expected to be the most effective treatment for this disease.
DOAJ (DOAJ: Directory of Open Access Journals) · 2022 · 1 citations
Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)
AbstractIn recent years, research on the clinical phenotypes, new classifications, modified functional tests, biomarkers and management experience for patients with Gitelman syndrome (GS)has made a lot of progress in China. Based on evidence-based medicine, this consensus summarizes aspects related to GS, including clinical manifestations and classification, diagnosis, treatment strategies, and management of chronic complica-tions and comorbidity. This consensus provides an important reference for the diagnosis and treatment of GS.
A Case of Gitelman Syndrome Complicated by Growth Hormone Deficiency
AbstractBACKGROUND: In September 2022, a case of Gitelman syndrome combined with growth hormone deficiency was diagnosed in the pediatrics department of our hospital. The patient was a 14-year-old male who was admitted to the hospital due to weakness in both lower extremities for two days and the symptoms had worsened within half a day. From 2016 to 2022, the patient had been hospitalized four times for hypokalemia. The clinical manifestations included weakness in both lower extremities, difficulty walking, muscle pain in the lower extremities and thirst. METHODS: Blood and urine electrolyte tests, genetic testing for hereditary kidney diseases, and growth hormone stimulation tests were conducted. RESULTS: Laboratory test results showed potassium (K+) at 1.90 mmol/L, magnesium (Mg) at 0.65 mmol/L, 24-hour urine calcium at 0.12 mmol/24 hour, pH at 7.454, PaCO2 at 44.5 mmHg, PaO2 at 90 mmHg, HCO3- at 31.2 mmol/L, and BE at 7 mmol/L. Genetic testing for hereditary kidney diseases revealed that the child and his mother carried a heterozygous nucleotide variation of the SLC12A3 gene, c.497C>T, resulting in a missense variation of p.Ala166Val; the father did not have this variation, and no large fragment variations of the SLC12A3 gene were found. The final diagnosis was Gitelman syndrome caused by a single heterozygous mutation. Additionally, the patient's height was 148 cm (below the third percentile, -2.49 SD), and the results of the growth hormone stimulation test indicated growth hormone deficiency. After a multidisciplinary consultation, the diagnosis was con-firmed as: 1. Gitelman syndrome (hypokalemia); 2. Growth hormone deficiency. Oral spironolactone tablets were given for potassium retention treatment, and subcutaneous injection of recombinant human growth hormone was recommended. The patient's condition improved, and regular follow-ups were advised. CONCLUSIONS: Case of Gitelman syndrome (GS) combined with growth hormone (GH) deficiency are relatively rare. This case enriches the understanding of concurrent symptoms of GS and is helpful for improving the clinical understanding and treatment level of this disease.
Global Pediatrics · 2023 · 0 citations · open access
First case of Gitelman syndrome in a child in Macau
AbstractThe first case of a child with Gitelman syndrome (GS) in Macau was analyzed. The normotensive child presented with hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemia and hypocalciuria. SLC12A3 gene mutation was detected. In any children with persistent hypokalemia, it is crucial to establish the cause. In any children with presumed clinical diagnosis of GS, genetic testing is cardinal.
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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