# PKDNet - ARPKD Learning Network

> **NIH FDA R01** · CHILDREN'S HOSP OF PHILADELPHIA · 2024 · $400,000

## Abstract

PROJECT SUMMARY / ABSTRACT
Autosomal recessive polycystic kidney disease (ARPKD) is a rare disease, affecting ~1,500 children and young
adults in the U.S. In severely affected patients, ARPKD can present in the neonatal period with massively
enlarged kidneys and pulmonary hypoplasia, but the clinical spectrum of ARPKD is highly variable. We now
recognize that just ~50% of patients present perinatally, and many present later in childhood or even adulthood.
ARPKD causes progressive chronic kidney disease leading to kidney failure, as well as congenital hepatic
fibrosis, which can lead to intrahepatic bile duct dilatation, periportal fibrosis, and portal hypertension. Despite
this high burden of morbidity, there are currently no FDA-approved disease-modifying therapies for ARPKD.
Several drugs appear promising in animal studies, but only one small Phase 1 clinical trial has been completed.
Barriers to conducting clinical trials in ARPKD include: (1) limited natural history data; (2) lack of defined clinical
outcomes to serve as trial endpoints; (3) lack of validated prognostic biomarkers to identify patients at highest
risk of progression; and (4) difficulty in recruiting sufficient numbers of patients who are eligible, able, and willing
to participate in trials. The overall objective of this proposal is to accelerate clinical trials for ARPKD by creating
PKDnet, a robust data resource to identify a research-ready cohort of children with ARPKD and efficiently collect
high quality, large-scale natural history data and identify suitable endpoints and prognostic biomarkers to inform
clinical trial design. Data will come from PEDSnet, a National Pediatric Learning Health System with >14 years
of electronic health record data for >13 million children at 11 U.S. academic pediatric centers. To inform future
trial design, we will also leverage the PEDSnet infrastructure to administer patient and family surveys to identify
priorities for patient-reported and clinical outcomes and understand factors affecting willingness to participate in
clinical trials. Once established, PKDnet will serve as a sustainable resource for ARPKD research that will allow
ongoing analysis of longitudinal natural history data, provide valuable data to inform future clinical trial design,
and facilitate future recruitment of patients into high-priority studies.

## Key facts

- **NIH application ID:** 11034219
- **Project number:** 1R01FD008225-01
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Erum Aftab Hartung
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** FDA
- **Fiscal year:** 2024
- **Award amount:** $400,000
- **Award type:** 1
- **Project period:** 2024-09-15 → 2028-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11034219

## Citation

> US National Institutes of Health, RePORTER application 11034219, PKDNet - ARPKD Learning Network (1R01FD008225-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/11034219. Licensed CC0.

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