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Pediatric Evaluation and Registry for Liver Cholestasis in Canada
Sponsor: Children's Hospital of Eastern Ontario
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.
Official title: PEARL - Pediatric Evaluation and Registry for Liver Cholestasis in Canada
Key Details
Gender
All
Age Range
Any - 18 Years
Study Type
OBSERVATIONAL
Enrollment
220
Start Date
2026-03
Completion Date
2031-12
Last Updated
2026-03-10
Healthy Volunteers
No
Conditions
Locations (13)
Alberta Children's Hospital
Calgary, Alberta, Canada
Stollery Children's Hospital
Edmonton, Alberta, Canada
BC Children's Hospital
Vancouver, British Columbia, Canada
HSC Winnipeg Children's Hospital
Winnipeg, Manitoba, Canada
Janeway Children's Health and Rehabilitation Centre
St. John's, Newfoundland and Labrador, Canada
Children's Hospital IWK Health Centre
Halifax, Nova Scotia, Canada
McMaster Children's Hospital
Hamilton, Ontario, Canada
Children's Hospital LHSC
London, Ontario, Canada
Children's Hospital of Eastern Ontario
Ottawa, Ontario, Canada
CHU Sainte-Justine
Montreal, Quebec, Canada
Montreal Children's Hospital
Montreal, Quebec, Canada
CHU de Quebec - Universite Laval (Centre Mere-Enfant Soleil)
Qubec City, Quebec, Canada
Jim Pattison Children's Hospital
Saskatoon, Saskatchewan, Canada