Rare & Orphan Lab · DeCure for X

DeCure for Benign recurrent intrahepatic cholestasis

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for benign recurrent intrahepatic cholestasis — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0070230$DeCureRare

The disease map

Disease moduleBenign recurrent intrahepatic cholestasis maps to a 1-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 benign recurrent intrahepatic cholestasis 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

ATPase phospholipid transporting 8B1 (ATP8B1)ATP8B1 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 8OX7 · 2.56 Å · ligand (2R)-3-{[(R)-{[(1S,2S,3R,4S,5S,6S)-2,6-dihydroxy-3,4,5-tris(phosphonooxy)cyclohexyl]oxy}(hydroxy)phosphoryl]oxy}propane -1,2-diyl dioctanoate (IP9). Experimental structure, not a prediction.

What the evidence adds up to

Only about 70 cases of benign recurrent intrahepatic cholestasis had been reported in the literature by 1987. One patient was followed for over 25 years with sequential liver biopsies and showed no adverse physical consequences or histological deterioration, leading the authors to recommend a conservative approach to diagnosis and treatment. The disease is characterised by intermittent, self-limited episodes of severe pruritus and jaundice lasting weeks to months.

Benign recurrent intrahepatic cholestasis is an autosomal recessive disorder most often caused by homozygous mutations in genes encoding hepatocyte bile duct membrane proteins. Only 30% of cases exhibit multiple heterozygous mutations. A 2025 case report describes an unusual instance with heterozygous mutations in a single gene accompanied by prominent clinical symptoms, which the authors note suggests that the typical view — that multiple heterozygous mutations intensify clinical manifestations — may not always hold.

Diagnosis relies on compatible clinical presentation, laboratory parameters, and histology after excluding other causes of cholestasis such as viral hepatitis, drug or toxic origin, and biliary obstruction. Genetic testing confirms the diagnosis. The 2021 Moroccan case report restates these diagnostic criteria and the main characteristics from the literature.

What remains missing is any controlled trial data on treatment, any validated stratification of patients by genotype or episode severity, and the funding to move beyond case reports and small series.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Postgraduate Medical Journal · 1987 · 16 citations · open access

Benign recurrent intrahepatic cholestasis--25 years of follow-up

AbstractOnly 70 cases of recurrent intrahepatic cholestasis have been reported in the literature since the original description of this entity in 1959. The benign nature of the disease has been questioned, some authors suggesting progression to biliary cirrhosis. We report our follow-up of one such patient for over 25 years with no adverse physical consequences or histological deterioration. Sequential liver biopsies were obtained during this period. A conservative approach to diagnosis and treatment is therefore indicated.

https://doi.org/10.1136/pgmj.63.738.295
Baltic Journal of CLINICAL MEDICINE and RESEARCH · 2025 · 0 citations · open access

Recurrent Hyperbilirubinemia: The Diagnostic Challenge of Benign Recurrent Intrahepatic Cholestasis

AbstractBenign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive disorder characterized by mutations in genes encoding hepatocyte bile duct membrane proteins, most often in a homozygous form; only 30 % of cases exhibit multiple heterozygous mutations. This case presents an unusual instance of BRIC with heterozygous mutations in a single gene encoding a hepatocyte bile duct membrane protein, accompanied by prominent clinical symptoms. Typically, multiple heterozygous mutations are thought to intensify clinical manifestations, but this case suggests otherwise. Keywords: benign recurrent intrahepatic cholestasis, conjugated hyperbilirubinemia

https://doi.org/10.25143/rsu-bjcmr.2025.01.019-022
IAR Journal of Medical Case Reports · 2021 · 0 citations · open access

Benign Recurrent Intrahepatic Cholestasis (BRIC): A Case Report in Morocco

AbstractBenign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. After researching the main causes of cholestasis: viral hepatitis, drug and toxic origin, and also eliminate a biliary obstructive cause. Benign recurrent intrahepatic cholestasis (BRIC) is characterized by repeated self-limited episodes of severe pruritus and jaundice that last from several weeks to months. Diagnosis is based on a compatible clinical presentation, laboratory parameters and histology with exclusion of other causes of cholestasis and confirmed by genetic testing. The objective of this clinical case report , is to focus on the diagnostic criteria and to recall the main characteristics concerning BRIC in the literature.

https://doi.org/10.47310/iarjmcr.2021.v02i02.001

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.