Progressive Familial Intrahepatic Cholestasis in Indian Children - Establishing an Indian PFIC Registry

Last updated: March 20, 2024
Sponsor: Institute of Liver and Biliary Sciences, India
Overall Status: Active - Recruiting

Phase

N/A

Condition

Primary Biliary Cholangitis

Treatment

N/A

Clinical Study ID

NCT05704517
India_PFIC
  • Ages < 18
  • All Genders

Study Summary

The project will amalgamate data from several large Indian centers to describe the genotype, clinical spectrum, natural course, genotype-phenotype correlation, outcome, and response to medical therapy in Indian children with progressive familial intrahepatic cholestasis (PFIC). This will be the first such Indian registry of children with PFIC. There are currently limited single-center studies describing the genotype, natural course, and outcome of Indian children with PFIC.

Data will be collected retrospectively from the participating centers across the country. Only genetically confirmed cases would be included.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Genetically proven homozygous or compound heterozygous mutations of ATP8B1/ ABCB11/ABCB4/ TJP2/ NR1H4/ MYO5B/ USP53/ KIF12 AND
  • Clinical and biochemical evidence of chronic cholestatic disease AND / OR
  • Histological features of intrahepatic cholestasis with suggestive immunohistochemistry

Exclusion

Exclusion Criteria:

  • Genetic analysis showing mutations unrelated to intrahepatic cholestasis according todatabase
  • Clinical, biochemical, and histological evidence of progressive familial intrahepaticcholestasis without a genetic sequencing report

Study Design

Total Participants: 200
Study Start date:
January 28, 2023
Estimated Completion Date:
December 31, 2025

Study Description

There is a lack of robust literature from India on PFIC. The study would be the first to extensively describe the genotype of Indian children with PFIC and their natural course. Being a multicentric study, the results generated would therefore be applicable to the whole of the country. Understanding the prevalent genotypes in the Indian population and their related phenotype would help both the individual management decisions of these patients and further policy-making for their diagnosis and treatment. With the advent of genetic diagnosis through sequencing techniques and these tests becoming more affordable, every Indian center is now diagnosing a fair number of these cases which used to go undiagnosed previously. This has changed the landscape of cholestatic liver disease in children where PFICs are now the most prevalent pediatric cholestatic disorder. European studies have demonstrated 2 common mutations where patients respond very well to surgical biliary diversion and have good native liver survival. These mutations have rarely been reported in India. Results from this study could thus guide appropriate decision-making based on outcome and help choose the modality of treatment for the individual patient - medical, surgical biliary diversion, or liver transplantation.

Connect with a study center

  • Institute of Liver and Biliary Sciences

    New Delhi,
    India

    Active - Recruiting

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.