# The Pittsburgh Cholestatic Liver Disease Consortium

> **NIH NIH U01** · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · 2021 · $500,894

## Abstract

Project Summary
Pediatric cholestatic and chronic liver diseases including Alagille syndrome, alpha-1 antitrypsin deficiency, bile
acid synthesis defects, biliary atresia, cystic fibrosis, mitochondrial hepatopathies progressive familial
intrahepatic cholestasis and primary sclerosing cholangitis, lead to significant morbidity and mortality in childhood
and frequently necessitate liver transplantation. No single United States clinical center will care for enough
patients with these disorders to permit a rigorous answer to unresolved questions including etiology and
pathogenesis, optimal methods of diagnosis and treatment, and factors that influence disease severity and
prognosis. This competitive renewal proposal from the Pittsburgh Cholestatic Liver Disease Consortium at
UPMC Children’s Hospital of Pittsburgh (CHP) seeks to continue ongoing research activities in the Childhood
Liver Disease Research Network (ChiLDReN). This application for renewal funding includes a strong
commitment to continuing the on-going research efforts and two new proposals, one based upon the existing
research infrastructure, the other a novel clinical trial. The clinical center at CHP includes an outstanding group
of clinician investigators with well-documented expertise in basic, translational and clinical investigation.
Performance to date in the on-going ChiLDReN studies has been exemplary and has taken full advantage of the
population base within Western Pennsylvania and the unique referral patterns to CHP as a quaternary center for
Pediatric Hepatology and Liver Transplantation. We propose a novel translational study utilizing human induced
pluripotent stem cells coupled with “liver on a chip” technology available at the University of Pittsburgh to
individually characterize phenotypic variation in participants with. familial intrahepatic cholestasis 1 and 2
diseases. Also, abbreviated proposals will utilize existing ChiLDReN database and biosamples to demonstrate
our unique capabilities to advance understanding of ChiLDReN diseases. A phase I/II pilot study to determine
feasibility, tolerability, and safety of a FDA approved molecular chaperone to improve clinical (e.g. pruritus) and
biochemical features associated with familial intrahepatic cholestasis 1 disease is also proposed.

## Key facts

- **NIH application ID:** 10198902
- **Project number:** 5U01DK062466-20
- **Recipient organization:** UNIVERSITY OF PITTSBURGH AT PITTSBURGH
- **Principal Investigator:** Simon Horslen
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $500,894
- **Award type:** 5
- **Project period:** 2002-09-15 → 2024-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10198902

## Citation

> US National Institutes of Health, RePORTER application 10198902, The Pittsburgh Cholestatic Liver Disease Consortium (5U01DK062466-20). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10198902. Licensed CC0.

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