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NOT YET RECRUITING
NCT07411716

Pediatric Evaluation and Registry for Liver Cholestasis in Canada

Sponsor: Children's Hospital of Eastern Ontario

View on ClinicalTrials.gov

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

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