One of the major problems faced by clinicians in treating patients with a rare disease is that without the weight of clinical data supporting therapeutic options, clinical management is often based on opinion or anecdotal evidence. Ebner et al. (2015) describe how European clinicians are trying to overcome this critical data shortage for pediatric autosomal recessive polycystic kidney disease (ARPKD) through collaboration to establish a centralized biobank and data repository, ARegPKD.1
ARPKD is an extremely rare progressive kidney disease with autosomal recessive inheritance. The disease, which arises through mutation in the PKHD1 gene to cause a ciliopathy through decreased levels of fibrocystin, is understood better in adults than in children. ARPKD presents with varying phenotypes, which can also involve the liver in addition to development of renal cysts and diminished kidney function. However, with its rarity, doctors know very little about prognostic evaluation, and it is difficult to advise patients on an expected clinical progression. There are no clinical biomarkers and no widespread evaluation of treatment options available.
This situation is unlikely to change without widespread population studies that follow affected patients through diagnosis and treatment. With this in mind, two groups, the German Society for Pediatric Nephrology (GPN) and the European Study Consortium for Chronic Kidney Disorders Affecting Pediatric Patients (ESCAPE) network, have come together to collaborate on building a biobank that will act as a repository for clinical data and biospecimens from patients. With a focus on establishing a Web-based international collection built around pediatric patients with ARPKD, the ARegPKD biobank hopes to create a large cohort resource that will be available to researchers.
Patient recruitment follows strict inclusion criteria regarding diagnosis and data availability. Once these are fulfilled, patients and families undergo an informed consent process that allows for data and biospecimen collection. Data include family history, clinical details and pathology reports. Collection (blood, tissue, clinical data) continues with yearly follow-up visits, and staff upload information using a secure Web server, maintaining patient privacy through standard anonymizing procedures.
Following acquisition, data and biospecimens undergo a quality control process to maintain standards of research material available within the ARegPKD biobank. This includes querying missing data and subjecting tissues to a centralized histopathology evaluation at the University of Cologne, Germany. Once evaluated, digitization makes the reference histopathology preparations available online to researchers through the secure Web portal. ARegPKD stores other biosamples, such as plasma, serum and whole blood, within a secure and automated facility that provides the necessary backup safeguards for maintaining biobanking integrity.
Intended for long-term data recording, biobankers hope that ARegPKD will provide sufficient samples for researchers to investigate the impact of therapies and surgery on pediatric patients with ARPKD, in addition to characterizing useful biomarkers for disease prognosis and progression. The consortium hopes that this information will provide clinicians with a strong evidence base for therapeutic decisions and patient management.
1. Ebner, K., et al. (2015) “Rationale, design and objectives of ARegPKD, a European ARPKD registry study,” BioMed Central Nephrology, 16(22), doi:10.1186/s12882-015-0002-z