Rare & Orphan Lab · DeCure for X

DeCure for Benign recurrent intrahepatic cholestasis type 1

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for benign recurrent intrahepatic cholestasis type 1 — 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:0070231$DeCureRare

The disease map

Disease moduleBenign recurrent intrahepatic cholestasis type 1 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 type 1 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 70 cases of benign recurrent intrahepatic cholestasis had been reported by 1987, and a 25-year follow-up of one patient found no adverse physical consequences or histological deterioration on sequential liver biopsies. The authors of that report argued for a conservative approach to diagnosis and treatment. The benign nature of the disease had been questioned by some authors who suggested progression to biliary cirrhosis, but this single long-term follow-up did not support that.

A 2023 case series of three patients with the clinical picture of BRIC reported that all three were treated with ursodeoxycholic acid and rifampicin and showed complete recovery. The series notes that BRIC is a rare disease of unknown prevalence, transmitted as an autosomal recessive pattern, and that episodes are often self-limiting and precipitated by triggers such as viral infections and drugs. The available literature for BRIC is limited, and the true prevalence is hard to formulate.

A 2025 case report describes an unusual instance of BRIC with heterozygous mutations in a single gene encoding a hepatocyte bile duct membrane protein, accompanied by prominent clinical symptoms. The report notes that typically multiple heterozygous mutations are thought to intensify clinical manifestations, but this case suggests otherwise. Only 30% of cases exhibit multiple heterozygous mutations; the condition is most often homozygous.

What is still missing: larger prospective cohorts to establish true prevalence and natural history, controlled trials of ursodeoxycholic acid and rifampicin versus placebo or supportive care, and genetic stratification to determine whether heterozygous mutation patterns consistently predict milder or more severe 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.

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
Indian Journal of Case Reports · 2023 · 0 citations · open access

Benign recurrent intrahepatic cholestasis – case series and literature review

AbstractBenign recurrent intrahepatic cholestasis (BRIC) is a rare form of intrahepatic cholestasis seen in patients with genetic predispositions. It is a rare disease of unknown prevalence and is transmitted as an autosomal recessive pattern of inheritance. The available literature for BRIC is limited. It is hard to formulate the true prevalence of the disorder. Often precipitated by a trigger like viral infections and drugs, this condition results in a self-limiting episode of cholestasis. We present a case series of three patients with the clinical picture of BRIC. All three cases were fully evaluated for the cause of cholestasis and thereafter treated with ursodeoxycholic acid and rifampicin, which showed complete recovery.

https://doi.org/10.32677/ijcr.v9i12.4336

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.