The packet definition describes PFIC as a group of autosomal recessive disorders that disrupt bile formation. No genes, inheritance pattern or molecular mechanism are certified in the structured fields of this packet, so the genetic basis is not detailed here. The packet lists multiple numbered subtypes, indicating that the condition is genetically heterogeneous.

Diagnostic methods and criteria are not certified for the group as a whole in this packet. The GeneReviews chapter in the packet states that no consensus clinical diagnostic criteria have been published for the single subtype it covers, and it is not applied to PFIC generally. The packet does not certify newborn screening information for this condition.

The packet lists two FDA-approved therapies with active market status. LIVMARLI (maralixibat chloride) is recorded as an NDA product regulated by CDER, approved on 2025-04-10, and BYLVAY (odevixibat) as an NDA product regulated by CDER, approved on 2021-07-20. The packet's orphan drug records list both with the indication of treatment of progressive familial intrahepatic cholestasis. Neither is a gene therapy in the packet.

The packet also lists orphan drug designations for PFIC held by other sponsors, including modified mRNA candidates and a bile acid compound. A designation is not an approval, and the packet records an adeno-associated viral vector candidate as withdrawn. Management approaches beyond these records are not certified in this packet.

Prognosis is not certified in this packet. Natural history information is not provided in the structured fields, and the attached GeneReviews chapter covers a single subtype and is not applied to the group as a whole.

The packet lists active clinical trial records for PFIC on ClinicalTrials.gov. Records with current status include NCT07185919 (a study of odevixibat in participants in South Korea; recruiting; Ipsen), NCT07588880 (a study of odevixibat in China; recruiting; Ipsen), NCT07290257 (LEAP-EU, long-term safety and clinical outcomes of LIVMARLI in Alagille syndrome or PFIC; Phase 4; recruiting; Mirum Pharmaceuticals), NCT06193928 (LEAP-US; recruiting; Mirum Pharmaceuticals), NCT07293897 (a database study of maralixibat in Alagille syndrome and PFIC; recruiting; Takeda), NCT06778174 (TreatFIC, a prospective analysis of treatment; recruiting; University Medical Center Groningen) and NCT07411716 (a pediatric cholestasis registry in Canada; recruiting; Children's Hospital of Eastern Ontario). The packet's trial summary lists drug therapy, procedural interventions and other interventions as intervention types. Active clinical trials for this condition are listed on ClinicalTrials.gov.