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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.

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

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

Odevixibatapproved

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

Clinical trials

4 sponsors · 0 new · 1 completed in the last 12 months (net +0)

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.

Product approvals and authorisations
2022emaOriginal application approval — 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 ↗
2021emaOriginal application 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.