Pediatric Evaluation and Registry for Liver Cholestasis in Canada

Plain-language summary

This is a registry study set up to follow children with diseases associated with liver cholestasis, such as Alagille syndrome (ALGS) and the various PFIC subtypes. It includes children under 18 years of age who have a diagnosis linked to genes such as ATP8B1, ABCB11, ABCB4, TJP2, NR1H4, MYO5B or UTP4 and who are followed at participating centers in Canada. This is a study with no assigned phase and it is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Children's Hospital of Eastern Ontario

Start date

4/21/2026

Estimated completion

12/1/2031

Countries

Canada

Related genes

Locations

• Calgary, Canada
• Edmonton, Canada
• Vancouver, Canada
• Winnipeg, Canada
• St. John's, Canada
• Halifax, Canada
• Hamilton, Canada
• London, Canada
• Ottawa, Canada
• Montreal, Canada
• Montreal, Canada
• Qubec City, Canada
• Saskatoon, Canada

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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)