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

Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: All
Maximum Age: 18
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
India
Institute of Liver and Biliary Sciences
RECRUITING
New Delhi
Contact Information
Primary
Bikrant B Lal, MD, DM
bikrant18may@gmail.com
+919540951063
Time Frame
Start Date: 2023-01-28
Estimated Completion Date: 2025-12-31
Participants
Target number of participants: 200
Sponsors
Leads: Institute of Liver and Biliary Sciences, India
Collaborators: Glenegales Global Health City, Chennai, Sahyadri Superspeciality Hospital Pvt Ltd, Pune, Apollo Hospital, New Delhi, India, Jaslok Hospital and Research Centre, Institute of Child Health, Chennai, KEM Hospital Research Centre

This content was sourced from clinicaltrials.gov