DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Jervell and Lange-Nielsen syndrome — 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 moduleJervell and Lange-Nielsen syndrome 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 jervell and lange-nielsen 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
potassium voltage-gated channel subfamily Q member 1 (KCNQ1) — KCNQ1 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 2rdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7XNN · 2.5 Å · ligand (2R)-N-[4-(4-methoxyphenyl)-1,3-thiazol-2-yl]-1-(4-methylbenzene-1-sulfonyl)piperidine-2-carboxamide (I0S). Experimental structure, not a prediction.
What the evidence adds up to
In a 2015 electrocardiographic and genetic study of 1,080 patients with hearing loss (mean age 21.8 years), mean QTc was 422.8 ms in 313 women, 414.9 ms in 273 men, and 421.1 ms in 441 children. Abnormal QTc was found in 4.1% of women, 7.3% of men, and 16.3% of children. No recessive mutation of KCNQ1 or KCNE1 was found. In six patients, other mutations were identified: one in KCNQ1, three in KCNH2, one in SCN5A that were pathogenic for long-QT syndromes, and two mutations of unknown significance in SCN5A. Long-QT syndrome was diagnosed in three asymptomatic patients with abnormal QTc and in two patients with normal QTc who had been treated for epilepsy. The authors concluded that Jervell and Lange-Nielsen syndrome is very rare even in a population with hearing loss, and that the prevalence of prolonged QT interval is increased over the general population.
A 2020 case report described a 10-year-old girl with genetically confirmed Jervell-Lange-Nielsen syndrome who developed electrical storm after her propranolol formulation was changed from syrup to tablets. The report noted that gastric involvement and achlorhydria may be present in the syndrome, with subsequent alteration of medication bioavailability that can trigger severe arrhythmic complications. A 2025 case report of an 8-year-old child referred for cochlear implantation stated that treatment for hearing loss includes cochlear implants, and treatment for heart difficulties includes beta-blockers and, in certain circumstances, implantable cardioverter defibrillators for arrhythmias, syncope attacks, and sudden death.
The evidence base for Jervell and Lange-Nielsen syndrome remains limited to small case series and single-patient reports. No controlled trials of any intervention have been reported. What is missing is any systematic investigation of beta-blocker efficacy in this specific genotype, any prospective data on the safety of formulation switches, and any trial that stratifies patients by gastric function or bioavailability.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Cardiology Journal · 2015 · 12 citations · open access
QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study
AbstractBACKGROUND: The aim of the study was to determine, whether electrocardiogram (ECG) screening could reduce the risk of sudden cardiac death in patients with hearing loss through the early diagnosis of Jervell and Lange-Nielsen syndrome and the introduction of the therapy. METHODS: One thousand and eighty patients with hearing loss (aged 21.8 ± 19.9 years) underwent ECG. Additionally, all subjects were asked to complete a 3-question survey. Those who met, at least, one of the high-risk criteria underwent further cardiac assessment and genetic testing. RESULTS: QTc assessment was possible in 1,027 patients. Mean QTc measured 422.8 ± 23.7 ms in 313 women, 414.9 ± 27.7 ms in 273 men and 421.1 ± 21.5 ms in 441 children (individuals younger than 14 years). Abnormal QTc was found in 13 (4.1%) women, 20 (7.3%) men, and 72 (16.3%) children. In the studied group, no recessive mutation of KNCQ1 or KCNE1 was found. In 6 patients, other mutations were found: in KCNQ1 (n = 1), in KCNH2 (n = 3) and in SCN5A (n = 1), which were pathogenic for long-QT-syndromes (LQTS), and 2 mutations of unknown clinical significance in SCN5A. Overall, out of these 6 patients LQTS was diagnosed in 3 asymptomatic patients, but with abnormal QTc and in 2 patients with normal QTc, but who were previously treated for epilepsy. CONCLUSIONS: Jervell and Lange-Nielsen syndrome is a very rare condition even in a population with hearing loss. In this population, the prevalence of prolonged QT interval is increased over the general population. Further investigations are necessary.
Propranolol syrup to tablets change triggers electrical storm in Jervell-Lange-Nielsen syndrome
AbstractA 10-year-old girl with genetically confirmed Jervell-Lange-Nielsen syndrome treated with beta-blocker and developed electrical storm after changing propranolol syrup to tablets. Jervell-Lange-Nielsen is characterised by long QT and congenital sensorineural deafness, with high risk of malignant arrhythmias at early ages. Gastric involvement and achlorhydria may be present, with subsequent alteration of medication bioavailability which can trigger severe arrhythmic complications.
Cardioauditory Syndrome of Jervell and Lange-Nielsen
AbstractAn 8-year-old deaf-mute girl experienced syncopal attacks. Past medical history revealed cardiac arrhythmia which had developed following an abdominal surgery for a twisted ovarian cyst. Electrocardiogram showed a Q-Tc interval of 40/100 second. The diagnosis was Jervell and Lange-Nielsen syndrome. Etiology, physiopathology, clinical picture, and management of the disease are discussed.
Archives of Anesthesia and Critical Care · 2025 · 0 citations · open access
Jervell-Lange Nielsen Syndrome: A Case Report
AbstractThere is a rare genetic disorder called Jervell-Lange Nielsen syndrome that leaves people congenitally deaf and with a long QT interval. This can lead to deadly heart rhythm problems and sudden death. For the treatment of hearing loss, cochlear implants, and for the treatment of heart difficulties, beta-blockers, and in certain circumstances, implantable cardioverter defibrillators, arrhythmias, syncope attacks, and sudden death are recommended. We discuss the case of an 8-year-old child who was referred for cochlear implantation after being diagnosed with Jervell-Lange Nielsen syndrome. In this study, we want to deal with patient management preoperatively and during surgery and describe the side effect of this syndrome
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.
