Canadian pediatric registry for Alagille syndrome and genetic intrahepatic cholestasis

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Children's Hospital LHSC
  London, Ontario, Canada Recruiting
• Children's Hospital of Eastern Ontario
  Ottawa, Ontario, Canada Recruiting
• 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

Study contacts

• Study coordinator: Mohit Kehar
• Email: MKehar@cheo.on.ca
• Phone: 613-737-7600 x 1516

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Odevixibat for PFIC in China: Real-world Safety and Effectiveness

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• Long-term safety and outcomes of Livmarli for Alagille syndrome in the EU

  This study will follow people with Alagille syndrome who take Livmarli to see if it is safe, well tolerated over the long term, and continues to reduce cholestatic itching.

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• Long-term outcomes of odevixibat (Bylvay) for people with PFIC in South Korea

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• Observational analysis of Progressive Familial Intrahepatic Cholestasis treatment

  This study is looking at how different treatments for Progressive Familial Intrahepatic Cholestasis work and what happens to patients over time to help improve care for those with this rare liver disease.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.