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

March 20, 2024 updated by: Institute of Liver and Biliary Sciences, India

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.

Study Overview

Status

Recruiting

Conditions

Detailed 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.

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • India
      • New Delhi, India
        • Recruiting
        • Institute of liver and Biliary Sciences
        • Contact:
          • Bikrant Lal, DM

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All genetically confirmed cases of progressive familial intrahepatic cholestasis (PFIC)

Description

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 Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Native liver survival (in percentage) at the latest follow up in different types of PFIC
Time Frame: Through study completion - average of 1 year
The proportion of patients of each subtype of PFIC who have survived with their own with their native liver till the time of last follow up
Through study completion - average of 1 year

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Describe the spectrum of genetic mutations in Indian children with familial intrahepatic cholestasis
Time Frame: Through study completion - average of 1 year
This objective would be assessed by studying the frequency of each of these subtypes of PFIC and describing the various genotypes under each subtype.
Through study completion - average of 1 year
Genotype-phenotype correlation in Indian children with various types of progressive familial intrahepatic cholestasis
Time Frame: Through study completion - average of 1 year
Well defined clinical parameters (jaundice, pruritus, presentation, presence of cirrhosis) and clinical end points (death, liver transplantation, native liver survival) would be used to describe the genotype-phenotype correlation. We will try to club various mutations into categories based on the type of mutations to better assess the genotype-phenotype correlation.
Through study completion - average of 1 year
Analyse the natural course after surgical biliary diversion in Indian children with various types of progressive familial intrahepatic cholestasis
Time Frame: Through study completion - average of 1 year
We will analyze the response to surgical biliary diversion in various types of PFIC with emphasis on identifying the genotypes likely to gain maximum benefit through this procedure. Biochemical parameters to assess/ predict the response would be evaluated by regression analysis.
Through study completion - average of 1 year
Complications after liver transplantation in children with various types of progressive familial intrahepatic cholestasis till the time of last follow up
Time Frame: Through study completion - average of 1 year
The proportion of children going for liver transplantation at various time points would be assessed. Genetic, clinical or biochemical parameters predicting need for imminent/ future liver transplantation would be determined by regression analysis.
Through study completion - average of 1 year
Proportion of patients surviving with native liver in uncommon variants of progressive familial intrahepatic cholestasis
Time Frame: Through study completion - average of 1 year
Describe the prevalence, natural course and outcome of uncommon variants of progressive familial intrahepatic cholestasis in Indian children
Through study completion - average of 1 year
Develop and maintain a registry of Indian patients with progressive familial intrahepatic cholestasis (Indian PFIC registry)
Time Frame: Through study completion - average of 2 years
A registry (Indian PFIC registry) would be maintained with use of appropriate data managing software.
Through study completion - average of 2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institute of Liver and Biliary Sciences, India

Collaborators

KEM Hospital Research Centre
Apollo Hospital, New Delhi, India
Jaslok Hospital and Research Centre
Institute of Child Health, Chennai
Sahyadri Superspeciality Hospital Pvt Ltd, Pune
Glenegales Global Health City, Chennai

Investigators

  • Principal Investigator: Bikrant B Lal, MD, DM, Institute of Liver and Biliary Sciences, New Delhi

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 28, 2023

Primary Completion (Estimated)

December 31, 2025

Study Completion (Estimated)

December 31, 2025

Study Registration Dates

First Submitted

December 21, 2022

First Submitted That Met QC Criteria

January 19, 2023

First Posted (Actual)

January 30, 2023

Study Record Updates

Last Update Posted (Actual)

March 21, 2024

Last Update Submitted That Met QC Criteria

March 20, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • India_PFIC

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Individual patient data would not be shared with other researchers.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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