Canadian pediatric registry for Alagille syndrome and genetic intrahepatic cholestasis
PEARL - Pediatric Evaluation and Registry for Liver Cholestasis in Canada
This registry collects long-term health and genetic information from children in Canada who have Alagille syndrome or genetic intrahepatic cholestasis to better track outcomes and support research.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 220 (estimated) |
| Ages | N/A to 18 Years |
| Sex | All |
| Sponsor | Children's Hospital of Eastern Ontario Academic / other |
| Locations | 13 sites (Calgary, Alberta and 12 other locations) |
| Trial ID | NCT07411716 on ClinicalTrials.gov |
What this trial studies
This multicenter Canadian registry enrolls children under 18 with genetically confirmed or clinically diagnosed Alagille syndrome (ALGS) or genetic intrahepatic cholestasis (GIC), including recognized PFIC subtypes and newly identified PFIC-like conditions. Participating pediatric hepatology centers use standardized forms to capture longitudinal clinical, laboratory, genetic, treatment, and outcome data. The protocol enables genotype–phenotype linkage and long-term follow-up, with provisions to add newly described conditions via protocol amendments. Collected data will be used to harmonize care across centers, inform prognosis by genotype, and enable future clinical research and therapeutic trials.
Who should consider this trial
Good fit: Children under 18 in Canada with a clinical or genetic diagnosis of Alagille syndrome or any subtype of genetic intrahepatic cholestasis who can enroll at a participating pediatric liver center.
Not a fit: Adults, children without ALGS or GIC diagnoses, or those unable to access participating Canadian pediatric liver centers are unlikely to receive direct benefit from this registry.
Why it matters
Potential benefit: If successful, the registry could improve understanding of long-term outcomes by genotype and help clinicians tailor care and plan future therapies for affected children.
How similar studies have performed: Other pediatric liver disease registries have improved knowledge of disease course and outcomes, though comprehensive national registries covering the full spectrum of GIC remain limited.
Eligibility criteria
Show full inclusion / exclusion criteria
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)
Where this trial is running
Calgary, Alberta and 12 other locations
- Alberta Children's Hospital — Calgary, Alberta, Canada (Not_yet_recruiting)
- Stollery Children's Hospital — Edmonton, Alberta, Canada (Not_yet_recruiting)
- BC Children's Hospital — Vancouver, British Columbia, Canada (Not_yet_recruiting)
- HSC Winnipeg Children's Hospital — Winnipeg, Manitoba, Canada (Not_yet_recruiting)
- Janeway Children's Health and Rehabilitation Centre — St. John's, Newfoundland and Labrador, Canada (Not_yet_recruiting)
- Children's Hospital IWK Health Centre — Halifax, Nova Scotia, Canada (Not_yet_recruiting)
- McMaster Children's Hospital — Hamilton, Ontario, Canada (Not_yet_recruiting)
- Children's Hospital LHSC — London, Ontario, Canada (Not_yet_recruiting)
- Children's Hospital of Eastern Ontario — Ottawa, Ontario, Canada (Recruiting)
- CHU Sainte-Justine — Montreal, Quebec, Canada (Not_yet_recruiting)
- Montreal Children's Hospital — Montreal, Quebec, Canada (Not_yet_recruiting)
- CHU de Quebec - Universite Laval (Centre Mere-Enfant Soleil) — Qubec City, Quebec, Canada (Not_yet_recruiting)
- Jim Pattison Children's Hospital — Saskatoon, Saskatchewan, Canada (Not_yet_recruiting)
Study contacts
- Study coordinator: Mohit Kehar
- Email: MKehar@cheo.on.ca
- Phone: 613-737-7600 x 1516
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.