Creating a registry for Indian children with Progressive Familial Intrahepatic Cholestasis
Progressive Familial Intrahepatic Cholestasis in Indian Children - Establishing an Indian PFIC Registry
This study is creating a registry to gather information about Indian children with Progressive Familial Intrahepatic Cholestasis to better understand their condition and improve their treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | N/A to 18 Years |
| Sex | All |
| Sponsor | Institute of Liver and Biliary Sciences, India Academic / other |
| Locations | 1 site (New Delhi) |
| Trial ID | NCT05704517 on ClinicalTrials.gov |
What this trial studies
This project aims to compile data from multiple large medical centers across India to characterize the genotype, clinical spectrum, and natural history of Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian children. It will be the first comprehensive registry of its kind in India, focusing on genetically confirmed cases. By analyzing the prevalent genotypes and their associated phenotypes, the study seeks to improve individual patient management and inform treatment policies. The findings could also guide decisions regarding medical therapy, surgical interventions, or liver transplantation based on genotype and clinical outcomes.
Who should consider this trial
Good fit: Ideal candidates for this study are Indian children with genetically confirmed mutations associated with PFIC.
Not a fit: Patients without genetically confirmed mutations related to intrahepatic cholestasis will not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could significantly enhance the understanding and management of PFIC in Indian children, leading to better treatment outcomes.
How similar studies have performed: While similar studies have shown success in Europe, this approach is novel in the Indian context, where such a registry has not previously existed.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
New Delhi
- Institute of Liver and Biliary Sciences — New Delhi, India (Recruiting)
Study contacts
- Principal investigator: Bikrant B Lal, MD, DM — Institute of Liver and Biliary Sciences, New Delhi
- Study coordinator: Bikrant B Lal, MD, DM
- Email: bikrant18may@gmail.com
- Phone: +919540951063
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.