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.
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.
Inability to comply with follow-up requirements (lost to follow-up)
Pediatric participants (\<18 years old) with genetically confirmed or clinically diagnosed ALGS or any of the various subtypes of GIC.
Cohort
Other
Not listed
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.
PEARL Registry - Secondary Outcomes
* To characterize the natural history of ALGS and GIC, including disease progression, clinical outcomes, and complications over time. * To evaluate the real-world effectiveness and safety of ileal bile acid transporter (IBAT) inhibitors and other therapeutic interventions in routine clinical practice. * To assess long-term outcomes associated with different treatment strategies and identify unmet clinical needs to inform future research priorities and therapeutic development. * To generate real-world evidence to support clinical decision-making and inform healthcare policy, including equitable access to specialized care and emerging therapies for rare pediatric cholestatic disorders. * To support the development and dissemination of standardized clinical care frameworks and best-practice recommendations across Canadian pediatric hepatology centers.
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Children's Hospital of Eastern Ontario
Lead sponsor
Mirum Pharmaceuticals, Inc.
Collaborator
medison pharma
Collaborator
