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Clinical Outcomes and Genetic Variant Spectrum in Korean Patients with Alagille Syndrome

Clinical Outcomes and Genetic Variant Spectrum in Korean Patients with Alagille Syndrome

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
CRIS
Registry ID
KCT0011064
Enrollment
113
Registered
2025-09-23
Start date
2025-08-26
Completion date
Unknown
Last updated
2025-11-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

None listed

Interventions

None listed

Sponsors

Seoul National University Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: Patients clinically diagnosed with Alagille syndrome (ALGS) at Seoul National University Hospital between January 1, 2000, and July 31, 2025 Patients with pathogenic or likely pathogenic variants confirmed in the JAG1 or NOTCH2 genes Patients demonstrating hepatic involvement or cholestasis Patients meeting diagnostic criteria including at least three characteristic clinical features or those with family history/genetic confirmation Availability of comprehensive clinical, biochemical, imaging, histopathological, and genetic data

Exclusion criteria

Exclusion criteria: Patients determined not to have Alagille syndrome Patients without definitive genetic test results or with insufficient data for diagnostic confirmation Patients with insufficient clinical follow-up data for analysis Patients with liver disease caused by other comorbid conditions

Design outcomes

Primary

MeasureTime frame
Native liver survival;Overall survival—

Secondary

MeasureTime frame
Clinical biochemistry parameters;Genetic variant type;Liver transplantation—

Countries

Korea, Republic of

Contacts

Public ContactShinjie Choi

Seoul National University Hospital

shinjie85@gmail.com+82-2-2072-4837

Outcome results

None listed

Source: CRIS (via WHO ICTRP) · Data processed: Feb 4, 2026