Pediatric Evaluation and Registry for Liver Cholestasis in Canada
PEARL
PEARL - Pediatric Evaluation and Registry for Liver Cholestasis in Canada
1 other identifier
observational
220
1 country
13
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Apr 2026
Longer than P75 for all trials
13 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 9, 2026
CompletedFirst Posted
Study publicly available on registry
February 17, 2026
CompletedStudy Start
First participant enrolled
April 21, 2026
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 1, 2031
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2031
May 4, 2026
April 1, 2026
4.9 years
February 9, 2026
April 28, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
PEARL Registry - Primary Outcome
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.
2-5 years
Secondary Outcomes (1)
PEARL Registry - Secondary Outcomes
2-5 years
Study Arms (1)
PEARL Registry
genetically confirmed or clinically diagnosed ALGS or any of the various subtypes of GIC
Eligibility Criteria
Pediatric participants (\<18 years old) with genetically confirmed or clinically diagnosed ALGS or any of the various subtypes of GIC.
You may qualify if:
- 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:
- 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.
You may not qualify if:
- Inability to comply with follow-up requirements (lost to follow-up)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Children's Hospital of Eastern Ontariolead
- Mirum Pharmaceuticals, Inc.collaborator
- medison pharmacollaborator
Study Sites (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
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Target Duration
- 6 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Pediatric Gastroenterologist and Hepatologist
Study Record Dates
First Submitted
February 9, 2026
First Posted
February 17, 2026
Study Start
April 21, 2026
Primary Completion (Estimated)
March 1, 2031
Study Completion (Estimated)
December 1, 2031
Last Updated
May 4, 2026
Record last verified: 2026-04