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Disease

Progressive familial intrahepatic cholestasis

Late-stage therapeutic development

Also known as PFIC, cholestasis, progressive familial intrahepatic.

8
Clinical trials
12
Associated genes
2
Related proteins
Current focus
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase biologyBile acid biologyTherapeutic development
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

Accelerated approval: Bylvay (EMA)

Regulatory2021-07-16EMA

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 1 clinical trial expected to report results, the earliest in Q3 2030.
Upcoming Milestones
Clinical Milestones5View
Results posted 4
Results expected 1
Activity timeline5

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Maralixibat chlorideapproved

Approval — Livmarli is indicated for the treatment of: Cholestatic pruritus in patients with Alagil… (2022)

Odevixibatapproved

Accelerated approval — Bylvay is indicated for the treatment of progressive familial intrahepatic cholestasis (P… (2021)

Clinical trials

4 sponsors · 1 new · 1 completed in the last 12 months (net +1)

The current development programme across all trial phases.

Clinical programme
8
All trials
1
Active
5
Late-stage
6
Completed
Late-stage studies

Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients With Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU)

Phase 4 · Recruiting · Mirum Pharmaceuticals, Inc.

An Open-label Extension Study to Evaluate Long-term Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 2)

Phase 3 · Completed · Albireo, an Ipsen Company

An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of TAK-625 in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis

Phase 3 · Completed · Takeda

An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)

Phase 3 · Completed · Mirum Pharmaceuticals, Inc.

Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)

Phase 3 · Withdrawn · Mirum Pharmaceuticals, Inc.
Recently completed

An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)

Phase 3 · Completed · Mirum Pharmaceuticals, Inc.

Open-Label, Phase 2 Study to Evaluate the Safety and Tolerability of Maralixibat in the Treatment of Infants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome

Phase 2 · Completed · Mirum Pharmaceuticals, Inc.

An Open-label Extension Study to Evaluate Long-term Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 2)

Phase 3 · Completed · Albireo, an Ipsen Company

An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of TAK-625 in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis

Phase 3 · Completed · Takeda

Open Label Study of the Efficacy and Long Term Safety of LUM001 (Maralixibat), an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Patients With Progressive Familial Intrahepatic Cholestasis

Phase 2 · Completed · Mirum Pharmaceuticals, Inc.

An Open Label, Single-Dose, Single Period Study Designed to Assess the Mass Balance Recovery, Metabolite Profile and Metabolite Identification of [14C]-A4250 in Healthy Male Subjects

Phase 1 · Completed · Albireo

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2022emaApproval — Maralixibat chloride· Livmarli is indicated for the treatment of: Cholestatic pruritus in patients with Alagille syndrome (ALGS) 2 months of age and older, Progressive familial intrahepatic cholestasis (PFIC) in patients 3 months of age and older. Livmarli tablets is indicated in adults and adolescents 12 years and older for the treatment of: Cholestatic pruritus in patients with Alagille syndrome (ALGS), Progressive familial intrahepatic cholestasis (PFIC). source ↗
2021emaAccelerated approval — Odevixibat· Bylvay is indicated for the treatment of progressive familial intrahepatic cholestasis (PFIC) in patients aged 6 months or older (see sections 4.4 and 5.1). source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

MYO5B0.76NR1H40.73ABCB110.70ATP8B10.70ABCB40.68SLC10A20.53LSR0.27ABCC20.09ABCC120.09ENTPD50.07XYLT20.07PCTP0.07

Disease biology

2 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Bile acid receptorvia NR1H40.737-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylasevia CYP8B10.06

Reference

Authoritative identity, definition & identifiers.

Synonyms

PFIC, cholestasis, progressive familial intrahepatic

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.