Significance of single-nucleotide polymorphisms (SNPs) for the course and outcome of liver diseases based on clinical endpoints

Significance of single-nucleotide polymorphisms (SNPs) for the course and outcome of liver diseases based on clinical endpoints - SNP-Liver

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00038631

Enrollment

339

Registered

2025-12-04

Start date

2026-01-13

Completion date

Unknown

Last updated

2026-02-02

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

Conditions

K83.00

Interventions

Group 1: Retrospective-prospective cohort analysis of patients with cholestatic liver diseases who were tested for cholestasis-relevant SNPs between 2013 and 2024.

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

Inclusion criteria: Patients who were treated at the Clinic for Internal Medicine II at the Saarland University Hospital and underwent genetic analysis of cholestasis-relevant SNPs of ABCB4, ABCB11, ATP8B1 and NR1H4 genes between 2013 and 2024.

Exclusion criteria

Exclusion criteria: Patients who do not fit into the previously defined group, with missing genetic SNP analyses or a data restriction, are excluded from the evaluation. Patients with completely missing data sets are also excluded.

Design outcomes

Primary

Measure	Time frame
Survival time of patients from initial presentation with hepatic or cholestasis-associated symptoms until death or until censoring date, with the date of death determined via a central inquiry through the ‘Auskunftsportal Saarland’.	—

Secondary

Measure	Time frame
Cholestasis-associated laboratory parameters, as well as laboratory parameters for assessing liver and kidney function and inflammatory processes, assessed at baseline and at the last available time point. These include albumin, ALAT (GPT), ASAT (GOT), alkaline phosphatase, bilirubin, cholesterol, CRP, glomerular filtration rate, gamma-glutamyltransferase (GGT), INR, creatinine, thrombocytes, Quick value, and leukocytes. The baseline lab test is assessed at the earliest possible time after initial presentation and the final lab test corresponds to the lab test at discharge or the last available measurement. If only one lab value is available, this is considered the baseline value. Other secondary endpoints include transient elastography data, where the degree of fibrosis is determined using the elasticity value (E-value in kPa) and the degree of steatosis using the controlled attenuation parameter (CAP-value in dB/m). If no values are available at baseline, the first available complete measurement is used. In the case of multiple measurements, the first available value and, if applicable, the maximum value are considered.	—

Measure

Time frame

Cholestasis-associated laboratory parameters, as well as laboratory parameters for assessing liver and kidney function and inflammatory processes, assessed at baseline and at the last available time point. These include albumin, ALAT (GPT), ASAT (GOT), alkaline phosphatase, bilirubin, cholesterol, CRP, glomerular filtration rate, gamma-glutamyltransferase (GGT), INR, creatinine, thrombocytes, Quick value, and leukocytes. The baseline lab test is assessed at the earliest possible time after initial presentation and the final lab test corresponds to the lab test at discharge or the last available measurement. If only one lab value is available, this is considered the baseline value. Other secondary endpoints include transient elastography data, where the degree of fibrosis is determined using the elasticity value (E-value in kPa) and the degree of steatosis using the controlled attenuation parameter (CAP-value in dB/m). If no values are available at baseline, the first available complete measurement is used. In the case of multiple measurements, the first available value and, if applicable, the maximum value are considered.

—

Countries

Germany

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 7, 2026