DeCure for Arthrogryposis-renal dysfunction-cholestasis syndrome
DeCure's autonomous Nephrology AI scientist is researching a drug-repurposing hypothesis for arthrogryposis-renal dysfunction-cholestasis 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 moduleArthrogryposis-renal dysfunction-cholestasis 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 arthrogryposis-renal dysfunction-cholestasis 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.
What the evidence adds up to
The 2018 report describes a 56-year-old man who developed bile cast nephropathy after abusing intramuscular anabolic steroids bought online. Kidney biopsy showed diffuse tubular damage with intratubular bile casts. He required dialysis for four weeks before renal function recovered. The authors state that full recovery is suspected when bilirubin levels fall and that early treatment of the underlying cause is essential. No drug is proposed for ARC syndrome in this paper.
The 2024 case series reports two siblings with ARC syndrome and a novel mutation. The authors suggest increased awareness and early genetic testing for ARC in cases with failure to thrive, renal tubular dysfunction, and rickets, even when cholestasis is mild. No treatment beyond prompt identification and intervention is discussed.
The 2019 case report describes a 45-day-old infant with ARC syndrome who received supportive care: Shohl’s solution or bicitra for acidosis, and fat-soluble vitamins (A, D, E, K), multivitamins, and MCT oil. No drug therapy targeting the underlying disease mechanism is mentioned. The authors call for more attention to these patients.
No abstract reports a drug that alters the course of ARC syndrome. What is missing is any trial of a specific pharmacological intervention, any funding for such a trial, and any patient stratification beyond the recognition of clinical subtypes.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Case Reports in Nephrology and Dialysis · 2018 · 11 citations · open access
Bile Cast Nephropathy: The Unknown Dangers of Online Shopping
AbstractRenal dysfunction in the setting of cholestatic liver disease is multifactorial but most often due to decreased kidney perfusion from intravascular volume depletion, acute tubular injury/necrosis, and hepatorenal syndrome. Drug-induced hepatotoxicity may be associated with a cholestatic injury pattern. We report a case of a 56-year-old man with a diagnosis of bile cast nephropathy, as a complication of drug-induced severe hyperbilirubinemia due to the abuse of intramuscular anabolic steroids bought on the internet to increase muscular mass for bodybuilding training. Kidney biopsy showed the histological pattern of diffuse potentially reversible tubular damage with intratubular bile casts obstructing the renal tubules. The patient developed acute kidney injury and needed dialysis treatment for 4 weeks until renal function recovered. The severity of the kidney injury and the requirement of hemodialysis observed in our patient are unique and have not been previously described. As full recovery of renal function is suspected with decreasing bilirubin levels, early recognition and treatment of the underlying disease is essential.
Clinical Case Reports · 2024 · 1 citations · open access
Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings
AbstractThis current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal tubular dysfunction, and rickets, even when the degree of cholestasis is mild. Prompt identification and intervention may improve the quality of life.
Nephro-Urology Monthly · 2019 · 0 citations · open access
A 45-Day-Old Infant: A Case Report of Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome
AbstractIntroduction: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disorder that affects several organs. Case Presentation: In this case report, a 45-days-old infant with ARC is introduced. The findings revealed different anomalies in different organ systems. He received supportive treatment, including Shohl's solution or bicitra for treating acidosis, and fat-soluble vitamins (A, D, E, K), multivitamins and MCT oil. Conclusions: More attention must be paid to patients with arthrogryposis-renal dysfunction-cholestasis (ARC).
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.
