Research Project
Project Title: |
ARegPKD |
Project Type: |
Registry Adjunct biobank: DNA, Serum, Plasma, Urine |
Disease group(s): |
Congenital malformations & ciliopathies |
Project Summary: |
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is the rare and often severe pediatric form of polycystic kidneys. It is characterized by kidney that are often grossly enlarged at birth and mandatory hepatic involvement. ARPKD occurs with an estimated incidence of 1:20.000 but is a major cause of end stage renal disease in large centers. The disorder is mainly caused by mutations in a single gene, PKHD1, encoding a huge transmembrane protein called Fibrocystin. The pathophysiology, clinical heterogeneity and long-term evolution of ARPKD remain poorly understood, explaining why there is currently no causative treatment. Even in most-advanced medical centers mortality remains substantial. Combined liver and kidney transplantation may be required in case of renal and hepatic failure. Severe and very early arterial hypertension is common and treatment often remains challenging. No clinical classifications, clinical risk factors or treatment guidelines for these challenges have been established so far and experience remains sparse even in large pediatric centers. The registry study ARegPKD addresses the major open scientific and clinical issues and aims to contribute to the fight against this life-threatening disorders of early childhood, to advance the pathophysiological understanding, to provide an observational evidence base for unified clinical treatment concepts, to establish clinical and biomarkers predicting the risk of early and progressive disease, and thus to lay the foundation for innovative translational research toward novel therapeutic targets. |
Lead principal investigator(s): |
Max Liebau, Cologne Franz Schaefer, Heidelberg Giovanni Montini, Milan |
Project Period: |
06/2013 - 06/2023 |
Sponsors: |
Non-profit foundation, National funding agency, Regional funding agency, Local resources |
Project web page: |
www.aregpkd.org |
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