PFIC Plasma

PFIC Plasma for Monogenic Cholestatic Liver Disease Research

PFIC Plasma is collected from IRB-consented donors with a clinically confirmed diagnosis of progressive familial intrahepatic cholestasis (PFIC) and processed within one day of collection to preserve bile acids, proteins and metabolites. Plasma is an acellular matrix, so these samples are intended for analyte-level work: bile acid profiling, hepatobiliary chemistry, and targeted or discovery proteomics and metabolomics.

Transporter Defects and Bile Acid Handling in PFIC

PFIC is a group of autosomal recessive monogenic disorders in which mutations in hepatocanalicular transport proteins disrupt bile formation, causing intrahepatic cholestasis that progresses to fibrosis and cirrhosis. It is a genetic transporter disease, not an autoimmune one, and the analytes that matter follow directly from which transporter is affected.

• PFIC type 1 arises from ATP8B1 variants affecting FIC1, a phospholipid flippase required for canalicular membrane integrity; extrahepatic features such as diarrhoea and hearing loss can accompany liver disease.
• PFIC type 2 arises from ABCB11 variants affecting the bile salt export pump (BSEP), the principal canalicular bile acid transporter, and typically presents with severe early cholestasis.
• PFIC type 3 arises from ABCB4 variants affecting MDR3, the phosphatidylcholine floppase, producing bile that is toxic to biliary epithelium.
• Serum and plasma gamma-glutamyl transferase (GGT) is the single most useful discriminator: it is characteristically normal to low in types 1 and 2 but elevated in type 3, which makes subtype-annotated plasma valuable for assay and algorithm development.
• Total and individual bile acids are the central analyte class across all subtypes and are markedly elevated in plasma, supporting bile acid profiling by LC-MS/MS and enzymatic methods.
• Additional genes including TJP2, NR1H4 and MYO5B have been described in PFIC-like phenotypes, and molecularly annotated donors support work spanning the wider low-GGT cholestasis spectrum.

Donor Stratification Available

• PFIC subtype where documented: type 1 (ATP8B1), type 2 (ABCB11), type 3 (ABCB4), or genetically undefined
• GGT phenotype: low-to-normal GGT vs elevated GGT cholestasis
• Disease stage: cholestasis without cirrhosis, established fibrosis/cirrhosis, or post-transplant
• Pruritus severity where documented
• Treatment status: ursodeoxycholic acid, IBAT inhibitor, biliary diversion, or treatment-naive
• Age group, including paediatric and adolescent donors
• Matched healthy controls available

Product Features

• Research Use Only (RUO) human plasma from clinically confirmed PFIC donors
• Processed within one day of collection to preserve labile analytes
• Anticoagulant and collection tube specified to your protocol where feasible
• Custom aliquot volumes available on request; volumes reported per lot
• PFIC presents predominantly in infancy and childhood; paediatric collections are conducted under parental or guardian informed consent with age-appropriate assent, and available volumes are correspondingly limited

De-identified Donor Data

• Verified PFIC diagnosis, subtype and method of molecular confirmation where available
• Demographics: age, sex assigned at birth, race/ethnicity
• Liver function test results and GGT status where documented
• Donor-reported medications, allergies and comorbidities
• Additional PFIC-specific metadata available on request

Applications

• Total and individual bile acid profiling by mass spectrometry
• Hepatobiliary injury and cholestasis biomarker discovery and validation
• Subtype discrimination studies, including GGT-based classification
• Plasma proteomics and metabolomics in monogenic cholestasis
• Fibrosis progression biomarker research
• Pharmacodynamic endpoint development for IBAT inhibitors and other bile acid-directed therapeutics
• Gene therapy and transporter-replacement programme baseline and comparator material
• Rare paediatric liver disease assay development and control matrix

Other PFIC Specimen Types

• PFIC Serum
• PFIC Whole Blood
• PFIC PBMC

Compliance and Quality Assurance

• IRB-approved and HIPAA-compliant protocols
• Electronic informed consent with 21 CFR Part 11-compliant e-signatures
• Standardised collection and processing SOPs
• Documentation support available for regulatory review

Ordering & Customization

PFIC Plasma is available in standard and custom volumes. For pricing, current availability, international orders or documentation requirements, email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To browse other disease-state options and live stock status across our plasma inventory, visit our human plasma page.