PFIC Network, Inc.
Cycle 2
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 May 2024
Clinical
Disease Class
Rare genetic diseases
Rare hepatic diseases
Body Systems
Digestive
Integumentary / Exocrine
Metabolic
Organs
Bowel
Liver
Genes
ABCB11
ABCB4
ATP8B1
KIF12
MYO5B
NR1H4
SEMA7A
SLC51A
TJP2
USP53
VPS33B
ZFYVE19
Type of Inheritance
Autosomal recessive
Disease Mechanism(s)
Pathogenic mutation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Incidence
Less than 10
Prevalence
Unknown
Populations and/or ancestry with higher prevalence
Amish community, Middle East, Southwest Asia,
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
Alternative treatments (eg. nutritional supplements)
Drugs approved for the symptoms
Drugs used off-label
· ursodiol, rifampicin, 4-phenylbuterate, naltrexone, cholestyramine, sertraline
Expanded access to drugs
· Livmarli
Organizational & Research
Cell Lines
Not specified / unknown
Cell Lines, location
Not specified
Cell Lines, share
N/A
Disease Model
Mouse
Zebrafish
Disease Model, location
Cincinnati Children's Hospital
Disease Model, share
Unknown
Clinical Trial Role
Meeting with regulators
Recruitment and outreach, patients
Biobank
None
Center of Excellence
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
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
No
ICD Codes
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
No
Clinical/Treatment Guidelines
No
Organizational Roles
Executive Director
Patient Engagement Manager/Director
Science Advisory Board Policies
No policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
Asia
Europe
North America
Oceania
International Partners
Europe