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

NCT05704517 | Recruiting

• 1 other identifier: India_PFIC
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Progressive Familial Intrahepatic Cholestasis

Outcome Measures

Primary Outcomes (1)

• Native liver survival (in percentage) at the latest follow up in different types of PFIC

  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 Outcomes (6)

• Describe the spectrum of genetic mutations in Indian children with familial intrahepatic cholestasis

  Through study completion - average of 1 year

• Genotype-phenotype correlation in Indian children with various types of progressive familial intrahepatic cholestasis

  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

  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

  Through study completion - average of 1 year

• Proportion of patients surviving with native liver in uncommon variants of progressive familial intrahepatic cholestasis

  Through study completion - average of 1 year

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Institute of Liver and Biliary Sciences, India: lead
• Apollo Hospital, New Delhi, India: collaborator
• Sahyadri Superspeciality Hospital Pvt Ltd, Pune: collaborator
• Glenegales Global Health City, Chennai: collaborator
• KEM Hospital Research Centre: collaborator
• Jaslok Hospital and Research Centre: collaborator
• Institute of Child Health, Chennai: collaborator

Study Sites (1)

Institute of Liver and Biliary Sciences

New Delhi, India

RECRUITING

Related Publications (6)

• Agarwal S, Lal BB, Rawat D, Rastogi A, Bharathy KG, Alam S. Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome. J Clin Exp Hepatol. 2016 Sep;6(3):203-208. doi: 10.1016/j.jceh.2016.05.003. Epub 2016 May 24.

  PMID: 27746616 BACKGROUND

• Sharma A, Poddar U, Agnihotry S, Phadke SR, Yachha SK, Aggarwal R. Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. BMC Gastroenterol. 2018 Jul 4;18(1):107. doi: 10.1186/s12876-018-0835-6.

  PMID: 29973134 BACKGROUND

• Mitra S, Das A, Thapa B, Kumar Vasishta R. Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression. Fetal Pediatr Pathol. 2020 Apr;39(2):107-123. doi: 10.1080/15513815.2019.1641860. Epub 2019 Jul 23.

  PMID: 31335238 BACKGROUND

• van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipinski P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly DA, Nebbia G, Arnell H, Bjorn Fischler, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Munoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsofi A, Calvo PL, Grabhorn E, Sturm E, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz O, Onal Z, Bunt TMG, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium. Genotype correlates with the natural history of severe bile salt export pump deficiency. J Hepatol. 2020 Jul;73(1):84-93. doi: 10.1016/j.jhep.2020.02.007. Epub 2020 Feb 20.

  PMID: 32087350 BACKGROUND

• van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipinski P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Munoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsofi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz O, Kerkar N, Horby Jorgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ; Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency. Hepatology. 2021 Aug;74(2):892-906. doi: 10.1002/hep.31787. Epub 2021 Jul 13.

  PMID: 33666275 BACKGROUND

• Alam S, Lal BB. Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies. World J Hepatol. 2022 Jan 27;14(1):98-118. doi: 10.4254/wjh.v14.i1.98.

  PMID: 35126842 BACKGROUND

MeSH Terms

Conditions

Cholestasis, progressive familial intrahepatic 1

Study Officials

• Bikrant B Lal, MD, DM

  Institute of Liver and Biliary Sciences, New Delhi

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Bikrant B Lal, MD, DM

CONTACT

+919540951063; bikrant18may@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 21, 2022
• First Posted: January 30, 2023
• Study Start: January 28, 2023
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: March 21, 2024

Record last verified: 2024-03

Data Sharing

• IPD Sharing: Will not share

Locations

IN (1)