Pediatric Evaluation and Registry for Liver Cholestasis in Canada

NCT07411716 · tracked via the Priya Life Science Canada tracker

Sponsor

Children's Hospital of Eastern Ontario

Phase

Observational

Started

2026-04-21

Last updated

2026-05-04

Condition(s) studied

PFIC - Progressive Familial Intrahepatic CholestasisAlagille Syndrome (ALGS)Cholestasis, Intrahepatic

Study summary

The purpose of this study is to create a national, multi-centre registry for children with Alagille syndrome (ALGS) and Genetic Intrahepatic Cholestasis (GIC) that follows participants long-term, ensuring standardized, high-quality data capture across all participating pediatric hepatology centres.

Inclusion criteria:

• Pediatric participants (\<18 years old) with genetically confirmed or clinically diagnosed ALGS or any of the various subtypes of GIC, each associated with a distinct genetic mutation: A. PFIC Type 1 (FIC1 Deficiency) - Mutation in ATP8B1 gene. B. PFIC Type 2 (BSEP Deficiency) - Mutation in ABCB11 gene. C. PFIC Type 3 (MDR3 Deficiency) - Mutation in ABCB4 gene. D. PFIC Type 4 (TJP2 Deficiency) - Mutation in TJP2 gene. E. PFIC Type 5 (FXR Deficiency) - Mutation in NR1H4 gene. F. PFIC Type 6 (MYO5B-Associated) - Mutation in MYO5B gene. G. Progressive cholestasis of northwestern Quebec (PCNQ)-Mutation in UTP4 gene.

* Enrollment within Canadian pediatric liver centers participating in the registry.
* Written informed consent obtained from participant if they have the capacity, or parents/guardians, and assent from participants as appropriate.

Exclusion criteria:

• Inability to comply with follow-up requirements (lost to follow-up). Participants will be recruited from our hepatology clinics retrospectively (diagnosed on or after January 1, 2022) and prospectively (newly diagnosed). Written consent/assent will be obtained from all participants prior to data collection from the participants' medical chart.

Eligibility

Sex

ALL

Min age

—

Max age

18 Years

Healthy volunteers

Inclusion Criteria: * Pediatric participants (\<18 years old) with genetically confirmed or clinically diagnosed ALGS or any of the various subtypes of GIC, each associated with a distinct genetic mutation: A. PFIC Type 1 (FIC1 Deficiency) - Mutation in ATP8B1 gene. B. PFIC Type 2 (BSEP Deficiency) - Mutation in ABCB11 gene. C. PFIC Type 3 (MDR3 Deficiency) - Mutation in ABCB4 gene. D. PFIC Type 4 (TJP2 Deficiency) - Mutation in TJP2 gene. E. PFIC Type 5 (FXR Deficiency) - Mutation in NR1H4 gene. F. PFIC Type 6 (MYO5B-Associated) - Mutation in MYO5B gene. G. Progressive cholestasis of northwestern Quebec (PCNQ)-Mutation in UTP4 gene. Other novel PFIC-like conditions continue to be identified and may be included in the registry. If additional conditions are identified for inclusion in the registry, a protocol amendment will be submitted for REB approval. * Enrollment within Canadian pediatric liver centers participating in the registry. These include: Children's Hospital of Eastern Ontario (Ottawa, ON, Lead Site), CHU Sainte-Justine (Montreal, QC), McMaster Children's Hospital (Hamilton, ON), Montreal Children's Hospital (Montreal, QC), Alberta Children's Hospital (Calgary, AB), Stollery Children's Hospital (Edmonton, AB), Janeway Children's Health and Rehabilitation Centre (St. John's, NL), Jim Pattison Children's Hospital (Saskatoon, SK), Children's Hospital LHSC (London, ON), Children's Hospital IWK Health Centre (Halifax, NS), BC Children's Hospital (Vancouver, BC), HSC Winnipeg Children's Hospital (Winnipeg, MB), Hôpital de l'Enfant-Jésus (Quebec City, QC) * Written informed consent obtained from participant if they have the capacity, or parents/guardians, and assent from participants as appropriate. Exclusion Criteria: * Inability to comply with follow-up requirements (lost to follow-up)

Primary outcome measure(s)

PEARL Registry - Primary Outcome — 2-5 years
To establish a national, multi-center, longitudinal registry for children with ALGS and GIC in Canada, incorporating both prospective enrollment and retrospective data collection, and ensuring standardized, high-quality data capture across participating pediatric hepatology centers.

Trial sites (13)

Facility	City	Region	Status
Alberta Children's Hospital	Calgary	Alberta	Not Yet Recruiting
Stollery Children's Hospital	Edmonton	Alberta	Not Yet Recruiting
BC Children's Hospital	Vancouver	British Columbia	Not Yet Recruiting
HSC Winnipeg Children's Hospital	Winnipeg	Manitoba	Not Yet Recruiting
Janeway Children's Health and Rehabilitation Centre	St. John's	Newfoundland and Labrador	Not Yet Recruiting
Children's Hospital IWK Health Centre	Halifax	Nova Scotia	Not Yet Recruiting
McMaster Children's Hospital	Hamilton	Ontario	Not Yet Recruiting
Children's Hospital LHSC	London	Ontario	Not Yet Recruiting
Children's Hospital of Eastern Ontario	Ottawa	Ontario	Recruiting
CHU Sainte-Justine	Montreal	Quebec	Not Yet Recruiting
Montreal Children's Hospital	Montreal	Quebec	Not Yet Recruiting
CHU de Quebec - Universite Laval (Centre Mere-Enfant Soleil)	Qubec City	Quebec	Not Yet Recruiting
Jim Pattison Children's Hospital	Saskatoon	Saskatchewan	Not Yet Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07411716 on ClinicalTrials.gov ↗ ← All trials in Canada