PFIC Network, Inc.

Cycle 2

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Progressive Familial Intrahepatic Cholestasis (PFIC) is a general term that represents a group of rare genetic (inherited) disorders that cause increasingly severe liver disease and can lead to cirrhosis and end-stage liver disease. There are over six different types of PFIC. While the different types of PFIC have overlapping symptoms, each one is unique and can differ in disease presentation and prognosis. Often the hallmark feature of this disorder is severe and debilitating pruritus (itching). The disease typically presents in infancy or early childhood.

Last updated 04/30/2026

Clinical

Disease Class

Abdominal surgical diseases

Cancer predisposition syndromes

Gastroenterological diseases

Genetic diseases

Hepatic diseases

Inherited metabolic disorder

Multi-system genetic syndromes

Protein synthesis and tRNA disorders

Transplant-related diseases

Body Systems

Digestive

Integumentary / Exocrine

Metabolic

Organs

Bowel

Liver

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

ABCB11

ABCB4

ATP8B1

KIF12

MYO5B

NR1H4

SEMA7A

SLC51A

TJP2

USP53

VPS33B

ZFYVE19

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal recessive

Newborn Screening

Disease Mechanism(s)

Cilia dysfunction

Cofactor/vitamin deficiency or defect

Defective cell adhesion

Other nutrient/metabolite transporter defect

Transport defect

Vesicle trafficking defect

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Average Age at Diagnosis

Early childhood (age 1+-5)

Infancy (age 0-1)

Life Expectancy

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Middle childhood (6-11)

Affected Sex(es)

Female

Male

National Prevalence

1001-10000

Global Prevalence

1001-10000

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

Amish community, regions with high consanguinity, Middle East.

Symptoms / Phenotypes

cancer / carcinoma / tumor / malignancy, unspecified

diarrhea

enlarged liver / hepatomegaly

failure to thrive

gallstones / cholelithiasis

hearing loss / hearing impairment

jaundice

liver disease

pancreatitis

pruritus / itching

teeth discoloration

vitamin deficiency

Biomarkers

Therapeutic

· Bile Salts

Existing Therapies

Off-Label Drug Use

Regulatory Agency-Approved for Symptom Relief

· maralixibat, odevixibat

Therapies in Development

Antisense oligonucleotide (ASO) therapy

Gene therapy

RNA interference (RNAi) therapy (siRNA, etc.)

Repurposed drug

Small molecule therapy (novel small molecule drugs)

· IBAT inhibitors (odevixibat and maralixibat)

Surgical & interventional

Therapeutic Development Stages

Approved/Available

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Focus group participation or coordination

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

None

Disease Model, share

N/A

Organizational Challenges

An ongoing need exists for engagement guidelines with pharmaceutical partners

Clinical Trial Role

Meeting with regulators

Recruitment and outreach, patients

Clinical Trial Types

Phase 2

Phase 3

Phase 4

Biobank, Institution

None

Center of Excellence, Institution

None

Registry

Yes, we have a registry that we created

Data Collected, Registry

Longitudinal natural history data

Medication usage

Other

Patient contact info

Patient-reported data

Data Entered by, Registry

Other

Patients

Platform, Registry

REDCap

Natural History Study

No, we do not have a natural history study and have no plans to create or collaborate on one

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-11 code specific to our exact disease

Diagnostic Guidelines

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN and willing to share policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

Yes we have a Research Roadmap, and will share policies

Asia

Europe

North America

Oceania

Europe

North America