Genetic Variants Associated With the Risk of Gall Stones and Cirrhosis.

NCT06679738 | Not Yet Recruiting

• 1 other identifier: ILBS-Cirrhosis-67
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

Gall stone disease is more common in patients with cirrhosis. This association has been well established in different studies. Among the various factors which predispose a patient with gall stone disease to have associated liver cirrhosis, genetics also plays an important role. This study aims to do a genetic panel-based analysis of genes which are involved in cholestasis to find any association between liver cirrhosis and gall stone disease. Patients with history of gall stone or history of cholecystectomy done for gall stone disease will be evaluated for the presence of liver cirrhosis by fibroscan and ultrasonography. Those patients with cirrhosis and without cirrhosis will undergo a panel based genetic test for the common cholestasis genes and multivariate analysis will be done for variants associated with lithogenesis and cirrhosis.

Conditions

Liver Cirrhosis; Gall Stone

Outcome Measures

Primary Outcomes (1)

• Identification of genetic risk-variants associated with both GS and modulation of liver cirrhosis in patients with cirrhosis.

  Day 0

Secondary Outcomes (3)

• Identification of genetic polymorphisms in bile-acid metabolism and enterohepatic circulation, associated with increased GS risk in patients with cirrhosis.

  Day 0

• Identification of genetic polymorphisms in cholesterol metabolism pathway, associated with increased GS risk in patients with cirrhosis.

  Day 0

• To study the association of UGT1A1 polymorphisms affecting bilirubin conjugation, with risk of GS in patients with cirrhosis.

  Day 0

Study Arms (5)

Cirrhosis with GSD

Cirrhosis with GSD

No cirrhosis with no GSD

No cirrhosis with no GSD

Cirrhosis with no GSD

Cirrhosis with no GSD

GSD with no cirrhosis

GSD with no cirrhosis

Cirrhosis with history of cholecystectomy for GSD

Cirrhosis with history of cholecystectomy for GSD

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* Patients \> 18 years of age. * Who have either gall stone disease or cirrhosis.

You may qualify if:

• Patients \> 18 years of age.
• Who has a GSD diagnosed by USG or have history of cholecystectomy for gall stone disease.
• Who is a diagnosed case of cirrhosis by Fibroscan or USG (Cirrhosis including alcohol related cirrhosis, Hepatitis B, Hepatitis C, Wilsons disease, Hemochromatosis are excluded.

You may not qualify if:

• Patients who have haemolytic anaemia
• Patients who do not consent for genetic study
• Patients who has a diagnosed cause for liver disease, including alcohol related cirrhosis, Hepatitis B, Hepatitis C, Wilsons disease, Hemochromatosis.
• Inability to provide informed consent.
• Cannot understand Hindi or English should be excluded since they will not be able to reply objectively to questionnaire.

Sponsors & Collaborators

• Institute of Liver and Biliary Sciences, India: lead

Study Sites (1)

Institute of Liver & Biliary Sciences

New Delhi, National Capital Territory of Delhi, 110070, India

Location

Biospecimen

Retention: SAMPLES WITH DNA

Genetic Analysis

MeSH Terms

Conditions

Liver Cirrhosis; Gallstones

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Fibrosis; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Cholelithiasis; Biliary Tract Diseases; Cholecystolithiasis; Gallbladder Diseases; Calculi; Pathological Conditions, Anatomical

Central Study Contacts

Dr Ananthu Narayan S J, MD

CONTACT

01146300000; ananthunarayansj@gmail.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 6, 2024
• First Posted: November 7, 2024
• Study Start: November 10, 2024
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: November 7, 2024

Record last verified: 2024-11

Locations

IN (1)