DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Andersen-Tawil 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 moduleAndersen-Tawil 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 andersen-tawil 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 inwardly rectifying channel subfamily J member 2 (KCNJ2) — KCNJ2 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 7ZDZ · 4.3 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Andersen-Tawil syndrome is a rare autosomal dominant disorder characterised by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features. The prevalence is estimated at one in a million. The condition is associated with dominant mutations in the potassium channel gene KCNJ2. Diagnosis can be delayed for years due to clinical variability; one case report describes an 11-year delay before the correct diagnosis was made.
Three case reports describe treatment with acetazolamide. In a 13-year-old girl, off-label acetazolamide lengthened periods without paralysis, reduced her need for a wheelchair, and improved her social life. An atypical case with a complicated presentation made a full recovery with acetazolamide after diagnosis. A 37-year-old woman with long-standing periodic paralysis and ventricular arrhythmias had her generalised weakness resolved with potassium supplementation, not acetazolamide; her genetic workup confirmed a KCNJ2 mutation.
No controlled trials of any drug for Andersen-Tawil syndrome are reported in these abstracts. The evidence for acetazolamide rests entirely on single-patient case reports, and one patient responded to potassium instead. The natural history of the syndrome includes transient weakness lasting minutes to hours, which makes uncontrolled observations difficult to interpret.
What is still missing is any randomised trial, any systematic collection of outcomes across multiple patients, any standardised measure of paralysis frequency or severity, and any stratification by genotype or dysmorphic phenotype. Funding for such a trial would need to come from rare-disease programmes, and the small patient population makes conventional trial design challenging.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Neurology · 2015 · 7 citations · open access
Child Neurology: Andersen-Tawil syndrome
AbstractAndersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the case of a young boy presenting with intermittent muscle weakness, ventricular arrhythmias, and other developmental abnormalities. It was subsequently renamed Andersen-Tawil syndrome following the additional work of Dr. Rabi Tawil. Periodic paralysis, cardiac arrhythmias, and dysmorphic features are now recognized as the 3 characteristic features in patients with ATS.1,2
Case Reports in Neurology · 2021 · 1 citations · open access
Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome
AbstractWe present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS.
Neurology International · 2019 · 1 citations · open access
Delayed diagnosed atypical case of Andersen-Tawil syndrome
AbstractAndersen-Tawil syndrome (ATS) is characterized by a triad of periodic paralysis, cardiac arrhythmias and distinctive dysmorphic features. Due to its rarity and high degree of clinical and phenotypic variability, a diagnosis of ATS can be very perplexing and challenging. Herein, an atypical case of ATS with a complicated presentation that caused an approximately 11-year delay in diagnosis is reported. The patient made a full recovery with acetazolamide after the diagnosis. The case and its management are presented with an updated literature review.
Frontiers in Medical Case Reports · 2023 · 0 citations · open access
A Rare Case of Anderson Tawil Syndrome
AbstractAndersen Tawil Syndrome (ATS) is a rare disorder, the prevalence of which is one in a million. We present case of a 37-year-old female with a long-standing history of periodic paralysis, and ventricular arrhythmias. She presented with generalized weakness which resolved with potassium supplementation. Genetic workup revealed KCNJ2 mutation.
Foment del Treball Nacional = Fomento del trabajo · 1996 · 0 citations
Contabilidad fiscal, La
AbstractAndersen-Tawil syndrome (ATS) is one of the periodic paralyses, a set of skeletal muscle disorders that cause transient weakness of the arms and legs lasting minutes to many hours. Distinguishing features of ATS include facial and limb dysmorphisms, cardiac arrhythmia, difficulties with executive function, and association with dominant mutations in the potassium channel, KCNJ2. In this review, we discuss the key features of ATS, diagnostic testing, pathophysiology and treatment of ATS, and compare them with other periodic paralyses.
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.
