International Registry Study on Autosomal Recessive Polycystic Kidney Disease


In this project the ESCAPE Network and the German Pediatric Nephrology Association (GPN) have joined forces with renowned translational researchers interested in Autosomal Recessive Polycystic Kidney Disease (ARPKD) to:

  • advance the pathophysiological understanding,
  • provide an observational evidence base for unified clinical management concepts,
  • establish clinical and biomarkers predicting the risk of early and progressive disease,
  • lay the foundation for innovative translational research toward novel therapeutic targets, and
  • pave the way for clinical trials in children with ARPKD.
Design:Pro- and retrospective observational study
Patients enrolled:> 750
Coordinating Center:Department of Pediatrics, University Hospital of Cologne
Contact Information:

ARegPKD has given fundamental insights into multiple aspects of ARPKD. This includes the description of pre- and perinatal clinical and sonographic risk markers for early dialysis dependency (Burgmaier et al., J Peds, 2018), the description of height-adjusted total kidney volume as an early risk marker for kidney survival in ARPKD (Burgmaier et al., Sci Reps, 2021), the description of clinical courses of ARPKD in young adults (Burgmaier et al., Sci Reps, 2019) and of clinical variability in siblings (Ajiri et al., KI Reps, 2022), and the description of an association of severe neurological consequences after very early bilateral nephrectomies in patients with ARPKd (Burgmaier et al., Sci Reps, 2020).

We could also describe novel genotype-phenotype correlations for both kidney and liver disease (Burgmaier et al., Kidney International, 2021) and describe the clinical courses of patients with ARPKD-mimicking phenotypes (Halawi et al., KI Reps, 2023). In a collaboration with the International peritoneal dialysis network we could describe that peritoneal dialysis can be applied in young children with ARPKD requiring only minor adaptations (Akarkach et al., AJKD, 2020).

Importantly, the detailed clinical description of ARPKD clinical courses and identification of risk markers have served as a basis for establishment of the first phase 3 clinical trials in ARPKD (Mekahli et al., BMC Nephrology, 2023).

Active ESCAPE Participants: