PoliGeNReg

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common genetic disorders, involving multiple generations in the affected family. In recent years, the therapeutic approach underwent significant changes with a deeper understanding of the disease’s pathogenesis and the use of tolvaptan, the first treatment that slows it’s progression. The multisystemic involvement and genetic variability in ADPKD necessitate a flexible and personalized therapeutic approach.

The primary objective of this project is to create a registry of ADPKD cases, a valuable tool for dynamic patient monitoring and the dissemination of medical and social information, impacting the recruitment for clinical studies and the eligibility for personalized therapies based on a genetic diagnosis approach. The development of a gene panel for the molecular diagnosis of ADPKD is proposed since genetic testing is recommended for selecting live donors, family planning, de novo and complex cases.

The genetic similarity of the population in the Northeast Region and the Republic of Moldova encourages the establishment of a shared cross-border patient registry for ADPKD. The PoliGeNReg project, through its integrated approach, facilitates patient access to diagnosis and treatment, interdisciplinary collaboration and exchange of good practice laying the groundwork for personalized medicine. This initiative warrants support and further development to the benefit of the medical community and the patients.