Cholestasis

Summary

Cholestasis (MONDO:0001751) is a disease (an umbrella term covering 5 Mondo subtypes) caused by USP53 (GenCC Strong), with 8 cohort genes (1 GWAS associations across 3 studies) and 67 clinical trials. Top therapeutic interventions include fish oil triglycerides, ursodiol, and fenofibric acid.

At a glance

• Causal gene: USP53 (GenCC Strong)
• Umbrella term: 5 Mondo subtypes
• Cohort genes: 8
• GWAS associations: 1
• ClinVar variants: 17
• Clinical trials: 67

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cholestasis
Mondo ID	MONDO:0001751
MeSH	D002779
DOID	DOID:13580
SNOMED CT	30144000
UMLS	C0008370
MedGen	925
Is cancer (heuristic)	no

Also known as: obstruction of bile duct

Data availability: 17 ClinVar variants · 1 GWAS association (3 studies) · 3 GenCC gene-disease records.

Disease family

An umbrella term covering 5 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › bile duct disorder › cholestasis

Related subtypes (6): perforation of bile duct, common bile duct disorder, non-neoplastic bile duct disorder, bile duct cyst, bile duct neoplasm, fibrosis of bile duct

Subtypes (5): extrahepatic cholestasis, obstructive jaundice, biliary atresia, intrahepatic cholestasis, parenteral nutrition-associated cholestasis

Genetics & variants

GWAS landscape

1 GWAS associations across 3 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs4871915	7e-07	NPM2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90080306	Backman JD	2021	1,070	386,859	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084292	Backman JD	2021	1,070	386,859	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90652191	Liu TY	2025	610	224,366	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs4871915	8	22034457	C>G	0.05	intron_variant	NPM2	7e-07	Tier 4: intronic/intergenic

ClinVar germline variants

17 retrieved; paginated sample, class counts are floors:

8 pathogenic, 3 uncertain significance, 3 likely pathogenic, 1 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
2506541	GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966)	ALPK2	Pathogenic	criteria provided, single submitter
694273	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	USP53	Pathogenic	criteria provided, multiple submitters, no conflicts
694473	NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	USP53	Pathogenic	criteria provided, single submitter
694474	NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	USP53	Pathogenic	criteria provided, single submitter
694476	NM_001371395.1(USP53):c.569+2T>C	USP53	Pathogenic	criteria provided, single submitter
694477	NM_001371395.1(USP53):c.583del (p.Arg195fs)	USP53	Pathogenic	criteria provided, single submitter
694478	NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	USP53	Pathogenic	criteria provided, single submitter
694480	NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	USP53	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
694481	NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	USP53	Pathogenic	criteria provided, multiple submitters, no conflicts
804474	NM_178859.4(SLC51B):c.84del (p.Arg29fs)	RASL12	Likely pathogenic	criteria provided, single submitter
694475	NM_001371395.1(USP53):c.395A>G (p.His132Arg)	USP53	Likely pathogenic	criteria provided, single submitter
694479	NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	USP53	Likely pathogenic	criteria provided, single submitter
167373	NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	NPHP4	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
617621	NM_003049.4(SLC10A1):c.[601_611del;745C>T]		Uncertain significance	no assertion criteria provided
2434972	NM_201384.3(PLEC):c.7311G>C (p.Gln2437His)	PLEC	Uncertain significance	criteria provided, single submitter
1683718	NM_024426.6(WT1):c.1321G>C (p.Asp441His)	WT1	Uncertain significance	criteria provided, single submitter
774611	NM_001966.4(EHHADH):c.910+7C>A	EHHADH	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 22 · Orphanet: 18 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
USP53	Strong	Autosomal recessive	cholestasis	3
PLEC	Moderate	Autosomal recessive	progressive familial intrahepatic cholestasis	18
PPM1F	Limited	Autosomal recessive	cholestasis

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PLEC	Orphanet:1114	Aplasia cutis congenita
PLEC	Orphanet:158684	Epidermolysis bullosa simplex with pyloric atresia
PLEC	Orphanet:254361	Plectin-related limb-girdle muscular dystrophy R17
PLEC	Orphanet:257	Epidermolysis bullosa simplex with muscular dystrophy
PLEC	Orphanet:79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
WT1	Orphanet:220	Denys-Drash syndrome
WT1	Orphanet:242	46,XY complete gonadal dysgenesis
WT1	Orphanet:251510	46,XY partial gonadal dysgenesis
WT1	Orphanet:3097	Meacham syndrome
WT1	Orphanet:347	Frasier syndrome
WT1	Orphanet:654	Nephroblastoma
WT1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
WT1	Orphanet:83469	Desmoplastic small round cell tumor
WT1	Orphanet:893	WAGR syndrome
NPHP4	Orphanet:3156	Senior-Loken syndrome
NPHP4	Orphanet:93592	Juvenile nephronophthisis
EHHADH	Orphanet:300	Bifunctional enzyme deficiency
EHHADH	Orphanet:3337	Primary Fanconi renotubular syndrome

Cohort genes → proteins

8 cohort genes, 8 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	8

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
USP53	HGNC:29255	ENSG00000145390	Q70EK8	Ubiquitin carboxyl-terminal hydrolase 53	gencc,clinvar
PLEC	HGNC:9069	ENSG00000178209	Q15149	Plectin	gencc,clinvar
PPM1F	HGNC:19388	ENSG00000100034	P49593	Protein phosphatase 1F	gencc
WT1	HGNC:12796	ENSG00000184937	P19544	Wilms tumor protein	clinvar
NPHP4	HGNC:19104	ENSG00000131697	O75161	Nephrocystin-4	clinvar
ALPK2	HGNC:20565	ENSG00000198796	Q86TB3	Alpha-protein kinase 2	clinvar
RASL12	HGNC:30289	ENSG00000103710	Q9NYN1	Ras-like protein family member 12	clinvar
EHHADH	HGNC:3247	ENSG00000113790	Q08426	Peroxisomal bifunctional enzyme	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
USP53	Ubiquitin carboxyl-terminal hydrolase 53	Deubiquitinase that mediates ‘Lys-63’-linked deubiquitination of tight junction proteins, such as MARVELD2 and LSR, and which is involved in the survival of auditory hair cells and hearing.
PLEC	Plectin	Interlinks intermediate filaments with microtubules and microfilaments and anchors intermediate filaments to desmosomes or hemidesmosomes.
PPM1F	Protein phosphatase 1F	Dephosphorylates and concomitantly deactivates CaM-kinase II activated upon autophosphorylation, and CaM-kinases IV and I activated upon phosphorylation by CaM-kinase kinase.
WT1	Wilms tumor protein	Transcription factor that plays an important role in cellular development and cell survival.
NPHP4	Nephrocystin-4	Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module.
ALPK2	Alpha-protein kinase 2	Protein kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation.
EHHADH	Peroxisomal bifunctional enzyme	Peroxisomal trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities.

Protein-family classification

Druggable: 3 · Difficult: 2 · Unknown: 3 · Druggable fraction: 0.38

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Phosphatase	1	10.5×	0.509
Protease	1	4.6×	0.509
Kinase	1	3.5×	0.509
Scaffold/PPI	1	2.2×	0.569
Transcription factor	1	1.0×	0.773
Other/Unknown	3	0.7×	0.919

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
USP53	Protease	yes		Peptidase_C19_UCH, USP, Papain-like_cys_pep_sf
PLEC	Scaffold/PPI	no		Plectin_repeat, SH3_domain, Actinin_actin-bd_CS
PPM1F	Phosphatase	yes		PP2C_BS, PPM-type_phosphatase-like_dom, PP2C
WT1	Transcription factor	no		Wilms_tumour_N, Znf_C2H2_type, Znf_C2H2_sf
NPHP4	Other/Unknown	no		NPHP4, Ig_NPHP4_4th, Ig_NPHP4_3rd
ALPK2	Kinase	yes		Ig_sub2, Ig_sub, a-kinase_dom
RASL12	Other/Unknown	no		Small_GTPase, Small_GTP-bd, P-loop_NTPase
EHHADH	Other/Unknown	no		Enoyl-CoA_hydra/iso, 3HC_DH_C, 3-OHacyl-CoA_DH_NAD-bd

Expression context

Cohort genes with no expression data: 0.

8 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	8
unknown	0

Top tissues across cohort

Tissue	Cohort genes
tibial nerve	2
calcaneal tendon	1
mucosa of stomach	1
hindlimb stylopod muscle	1
sural nerve	1
leukocyte	1
monocyte	1
mononuclear cell	1
germinal epithelium of ovary	1
metanephric glomerulus	1
renal glomerulus	1
adenohypophysis	1
right lobe of thyroid gland	1
right uterine tube	1
cardiac muscle of right atrium	1
left ventricle myocardium	1
myocardium	1
popliteal artery	1
saphenous vein	1
tibial artery	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
USP53	269	ubiquitous	marker	calcaneal tendon, tibial nerve, mucosa of stomach
PLEC	283	ubiquitous	marker	sural nerve, hindlimb stylopod muscle, tibial nerve
PPM1F	284	ubiquitous	marker	monocyte, mononuclear cell, leukocyte
WT1	168	broad	marker	germinal epithelium of ovary, renal glomerulus, metanephric glomerulus
NPHP4	165	ubiquitous	marker	right uterine tube, adenohypophysis, right lobe of thyroid gland
ALPK2	147	ubiquitous	marker	left ventricle myocardium, cardiac muscle of right atrium, myocardium
RASL12	247	broad	marker	popliteal artery, tibial artery, saphenous vein
EHHADH	241	ubiquitous	marker	right lobe of liver, liver, nephron tubule

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
WT1	3,938
PLEC	3,529
EHHADH	3,281
PPM1F	1,888
RASL12	1,587
NPHP4	1,579
USP53	927
ALPK2	371

Structural data

PDB: 3 · AlphaFold-only: 5 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
WT1	P19544	28
PLEC	Q15149	14
RASL12	Q9NYN1	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
EHHADH	Q08426	95.07
PPM1F	P49593	87.70
NPHP4	O75161	72.44
USP53	Q70EK8	55.34
ALPK2	Q86TB3	40.99

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 8 evidence-associated genes (5 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Type I hemidesmosome assembly	1	207.6×	0.014	PLEC
Caspase-mediated cleavage of cytoskeletal proteins	1	190.3×	0.014	PLEC
Beta-oxidation of very long chain fatty acids	1	175.7×	0.014	EHHADH
Nephron development	1	175.7×	0.014	WT1
Transcriptional regulation of testis differentiation	1	142.8×	0.014	WT1
Signaling by Hippo	1	108.8×	0.014	NPHP4
Negative regulation of NMDA receptor-mediated neuronal transmission	1	108.8×	0.014	PPM1F
Assembly of collagen fibrils and other multimeric structures	1	40.1×	0.034	PLEC
Peroxisomal protein import	1	34.6×	0.035	EHHADH
Negative Regulation of CDH1 Gene Transcription	1	24.0×	0.043	WT1
Anchoring of the basal body to the plasma membrane	1	22.6×	0.043	NPHP4

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cardiac muscle cell development	2	178.3×	0.006	PLEC, ALPK2
negative regulation of Wnt signaling pathway involved in heart development	1	2407.4×	0.009	ALPK2
protein-containing complex organization	1	2407.4×	0.009	PLEC
negative regulation of metanephric glomerular mesangial cell proliferation	1	2407.4×	0.009	WT1
actomyosin contractile ring assembly actin filament organization	1	2407.4×	0.009	PLEC
regulation of animal organ formation	1	1203.7×	0.009	WT1
skeletal myofibril assembly	1	1203.7×	0.009	PLEC
adrenal cortex formation	1	1203.7×	0.009	WT1
visceral serous pericardium development	1	1203.7×	0.009	WT1
posterior mesonephric tubule development	1	1203.7×	0.009	WT1
epicardium morphogenesis	1	1203.7×	0.009	ALPK2
positive regulation of metanephric ureteric bud development	1	1203.7×	0.009	WT1
leukocyte migration involved in immune response	1	802.5×	0.010	PLEC
negative regulation of protein transport	1	802.5×	0.010	PPM1F
cellular response to hydrostatic pressure	1	802.5×	0.010	PLEC
outer hair cell apoptotic process	1	802.5×	0.010	USP53
positive regulation of growth	1	601.9×	0.010	PPM1F
positive regulation of heart growth	1	601.9×	0.010	WT1
metanephric S-shaped body morphogenesis	1	601.9×	0.010	WT1
negative regulation of female gonad development	1	601.9×	0.010	WT1
thorax and anterior abdomen determination	1	481.5×	0.011	WT1
cardiac muscle cell fate commitment	1	481.5×	0.011	WT1
metanephric epithelium development	1	481.5×	0.011	WT1
tight junction organization	1	481.5×	0.011	PLEC
visual behavior	1	401.2×	0.012	NPHP4
cellular response to gonadotropin stimulus	1	401.2×	0.012	WT1
hemidesmosome assembly	1	343.9×	0.012	PLEC
metanephric mesenchyme development	1	343.9×	0.012	WT1
protein localization to ciliary transition zone	1	343.9×	0.012	NPHP4
tissue development	1	267.5×	0.014	WT1

Therapeutics

Drugs indicated for this disease

2 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Fish Oil Triglycerides	Approved (phase 4)
Tocofersolan	Approved (phase 4)
Fish Oil	Phase 3 (in late-stage trials)
Icosapent	Phase 3 (in late-stage trials)
Linerixibat	Phase 3 (in late-stage trials)
Soybean Oil	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Fenofibric Acid, Odevixibat, Ursodiol.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 8

Druggability breadth: 3 of 8 evidence-associated genes (38%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
USP53	0	0
PLEC	0	0
PPM1F	0	0
WT1	0	0
NPHP4	0	0
ALPK2	0	0
RASL12	0	0
EHHADH	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PLEC	12	Binding:12
PPM1F	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 8; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	3	USP53, PPM1F, ALPK2
E	Difficult family or no structure, no drug	5	PLEC, WT1, NPHP4, RASL12, EHHADH

Undrugged target profiles

8 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
USP53	0	—
PLEC	12	—
PPM1F	1	—
WT1	0	—
NPHP4	0	—
ALPK2	0	—
RASL12	0	—
EHHADH	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 67.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	35
PHASE2	10
PHASE3	8
PHASE1	7
PHASE4	3
PHASE2/PHASE3	3
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01373918	PHASE4	TERMINATED	Low Dose Fat for the Prevention of Liver Disease in Babies With Gastrointestinal Disorders
NCT01585935	PHASE4	COMPLETED	Preventing Cholestasis Using SMOFLipid®
NCT01998620	PHASE4	UNKNOWN	Efficacy and Safety of S-adenosyl-L-methionine in Treatment of Chronic Hepatitis B Patients With Cholestasis
NCT04167358	PHASE3	ACTIVE_NOT_RECRUITING	Linerixibat Long-term Safety, and Tolerability Study
NCT00007020	PHASE3	COMPLETED	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
NCT00058890	PHASE3	COMPLETED	Gabapentin to Treat Itch in Patients With Liver Disease
NCT00846963	PHASE2/PHASE3	COMPLETED	Ursodiol for Treating Parenteral Nutrition Associated Cholestasis in Neonates
NCT01194063	PHASE3	COMPLETED	Use of Omegaven Fish Oil Emulsion for Parenteral Nutrition Associated Liver Disease in Infants and Children
NCT01247012	PHASE2/PHASE3	UNKNOWN	Minimization of IntraLipid Versus Omegaven
NCT02357576	PHASE3	COMPLETED	Standard Lipid Therapy vs IVFE Minimization for Prevention of PNALD
NCT02370251	PHASE2/PHASE3	COMPLETED	Compassionate Use of Omegaven in Children
NCT02663453	PHASE3	COMPLETED	Effectiveness of Multicomponent Lipid Emulsion in Preterm Infants Requiring Parenteral Nutrition
NCT03662282	PHASE3	COMPLETED	Omegaven as Alternative Parenteral Fat Nutrition
NCT04309773	PHASE3	UNKNOWN	Efficacy of 24 Month of Bezafibrate in Primary Sclerosing Cholangitis With Persistent Cholestasis Despite Ursodeoxycholic Acid Therapy
NCT00004315	PHASE2	UNKNOWN	Phase II Pilot Study to Compare the Bioavailability of Buffered, Enteric-Coated Ursodiol With Unmodified Ursodiol for Chronic Cholestatic Liver Disease and Cystic Fibrosis-Associated Liver Disease
NCT00080236	PHASE2	COMPLETED	Safety and Efficacy Study of a Caspase Inhibitor in Patients Undergoing Liver Transplantation
NCT00816348	PHASE2	TERMINATED	Compassionate Use of Omegaven IV Fat Emulsion
NCT00826020	PHASE2	COMPLETED	Evaluation of Omegaven™ Parenteral Nutrition in Patients With Total Parenteral Nutrition (TPN)-Induced Cholestasis
NCT00969332	PHASE2	TERMINATED	A Safety and Efficacy Study to Determine if Giving Intravenous Fish Oil Helps Children With Liver Disease
NCT01739517	PHASE2	UNKNOWN	Efficacy and Safety of Omega-3 Lipid Therapy in Pediatric Patients With Parenteral Nutrition-Associated Liver Disease
NCT02420496	PHASE2	WITHDRAWN	Enteral Fish Oil is Superior to Ursodeoxycholic Acid (UDCA) and Placebo for the Treatment of Cholestasis in Infants
NCT02721277	PHASE1/PHASE2	TERMINATED	SMOFlipid to Lessen the Severity of Neonatal Cholestasis
NCT02966834	PHASE2	COMPLETED	Dose Response Study of GSK2330672 for the Treatment of Pruritus in Participants With Primary Biliary Cholangitis
NCT03586674	PHASE2	COMPLETED	Fibrates in Pediatric Cholestasis
NCT04604652	PHASE2	COMPLETED	Open-Label Study of HTD1801 in Adult Subjects With Primary Biliary Cholangitis
NCT00512629	PHASE1	COMPLETED	Cholestasis Prevention: Efficacy of IV Fish Oil
NCT01879735	PHASE1	COMPLETED	Biliary Excretion of Conjugated Bile Acids in Humans Measured by 11C-cholylsarcosine PET/CT
NCT02267707	PHASE1	TERMINATED	Pharmacokinetic and Safety Study of Nab®-Paclitaxel (ABI-007) Plus Gemcitabine in Subjects With Advanced Pancreatic Cancer Who Have Cholestatic Hyperbilirubinemia
NCT02801981	PHASE1	COMPLETED	Dose-escalation Study of GSK2330672 in Japanese Healthy Male Volunteers
NCT03992014	PHASE1	COMPLETED	Pharmacokinetics (PKs) and Metabolism of Radiolabelled Linerixibat
NCT04053023	PHASE1	COMPLETED	Linerixibat and Obeticholic Acid Drug Interaction Study in Healthy Subjects
NCT04510090	PHASE1	COMPLETED	Evaluate the Safety, Tolerability, and PK of EP547 in Healthy Subjects and Subjects With Cholestatic or Uremic Pruritus
NCT05582447	Not specified	ACTIVE_NOT_RECRUITING	Osmotic Fragility in Red Blood Cells of Pediatric Patients With Cholestatic Liver Disease
NCT06604923	Not specified	ACTIVE_NOT_RECRUITING	PET/CT Scans Using the Tracer 11C-Csar, a Bile Acid Analog, to Depict and Visualize Changes in the Hepatobiliary System in Patients With Primary Biliary Cholangitis Before and After Treatment.
NCT06610695	Not specified	ENROLLING_BY_INVITATION	PET/CT Scans Using the Tracer 11C-Csar, a Bile Acid Analog, to Depict and Visualize Cholestatic Disorders in Patients with Genetic Liver Disorders and Healthy Individuals
NCT07247604	Not specified	NOT_YET_RECRUITING	Congenital Heart Diseases and Developmental Assessment in Cholestatic Infants Under Two Years
NCT07569003	Not specified	RECRUITING	Prealbumin and IGF-1 Levels in Pediatric Chronic Cholestasis With Severe Malnutrition After Nutrition Therapy
NCT00004410	Not specified	COMPLETED	Randomized Study of Tauroursodeoxycholic Acid in Prophylactic Therapy of Total Parenteral Nutrition Associated Cholestasis in Infants
NCT00004414	Not specified	COMPLETED	Sincalide (Cholecystokinin Octapeptide) Versus Placebo in Neonates at High Risk for Developing Parenteral Nutrition Associated Cholestasis
NCT00007033	Not specified	COMPLETED	Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FISH OIL TRIGLYCERIDES	4	15
URSODIOL	4	9
FENOFIBRIC ACID	4	1
GABAPENTIN	4	1
OBETICHOLIC ACID	4	1
SINCALIDE	4	1
TAURURSODIOL	4	1
LINERIXIBAT	3	4
ADEMETIONINE	3	1
BEZAFIBRATE	3	1
BERBERINE URSODEOXYCHOLATE	2	1
EMRICASAN	2	1
CHOLYLSARCOSINE C-11	1	1
CHEMBL5409583	0	3
CHEMBL3981721	0	2
CHEMBL3739769	0	1
CHEMBL4303680	0	1
CHEMBL5197244	0	1
CHEMBL5412701	0	1
MAGNESIUM GLUCONATE	-1	1