PKDnet: ARPKD Learning Network
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Abstract
Study to accelerate clinical trials for autosomal recessive polycystic kidney disease (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.
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Description
Autosomal recessive polycystic kidney disease (ARPKD) is a rare disease that can cause kidney failure and liver complications and currently does not have any available FDA-approved treatments. Even though several drugs have appeared promising in animal studies, there are few clinical trials in humans due to a lack of detailed information about the natural history of ARPKD and difficulty in recruiting enough patients who are able and willing to take part in trials. The goal of this proposal is to accelerate clinical trials for ARPKD by creating PKDnet, a resource that will help to inform future clinical trial design by identifying children with ARPKD and efficiently collecting high quality, large-scale natural history data from PEDSnet, a large National Pediatric Learning Health System, and by performing patient and family surveys to identify research priorities and understand factors affecting willingness to participate in clinical trials.
Study Aims
- To validate and refine a computable phenotype for ARPKD to identify patients at all 10 PEDSnet centers.
- To define the natural history of ARPKD progression and identify key clinical outcomes and prognostic risk factors for three major disease complications: a) Neonatal complications; b) Kidney disease; and c) Liver disease.
- To inform future trial design, work with ARPKD Patient and Family Partners and leverage the PEDSnet infrastructure to design and 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.
Cohort Description
Aim 1:
Study period: January 1, 2009 to December 31, 2024
Inclusion Criteria:
- Patients aged <24 years on 2009-01-01
- Patients with >1 face-to-face encounter between 2009-01-01 and 2025-05-31
- Patients aged <24 years on first face-to-face encounter
- Patients meeting at least one of the following:
- a. >1 Face-to-face encounter with a nephrology provider or at a nephrology clinic
- b. >1 face-to-face encounter with a GI provider or at a GI care site
- c. >1 NICU admission
- Patients meeting at least one of the following:
- a. >1 kidney or liver diagnosis during an encounter meeting criteria 4a
- b. >1 liver diagnosis during an encounter meeting criteria 4b
- c. >1 kidney diagnosis during an encounter meeting criteria 4c
Aim 2:
In Progress.
Aim 3:
All participants:
- Able to read and write in English (*Note: We hope to open enrollment to Spanish-speaking participants in the future once we have had surveys and consents translated)
Patients with ARPKD: - Diagnosis of ARPKD confirmed by manual chart review*
- Age ≥8 years
Parents/caregivers of patients with ARPKD: - Parent of a living child with ARPKD aged 1-17 years old
- ARPKD diagnosis in child confirmed by manual chart review*
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