Study to Create a Clinical and Genetic Database for Hepato-Renal Fibrocystic Diseases Including ARPKD and Related Conditions

What this Trial Is About

Researchers are studying hepato-renal fibrocystic diseases HRFD, which include rare conditions like Autosomal Recessive Polycystic Kidney Disease ARPKD, Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis, Caroli syndrome, oro-facial-digital syndrome, nephronophthisis, and glomerulocystic kidney disease. The study aims to create a coordinated clinical and genetic database to improve diagnosis, treatment, and research progress by sharing information and biological samples among institutions. Participants can contribute to a clinical database by allowing access to their medical records, which will be anonymized and entered into a shared database. Optional parts of the study include genetic testing through blood or saliva samples from the participant and their parents, as well as donating tissue samples collected during medical procedures or autopsies. These samples will be stored in specialized repositories to support future research. Participants will have their medical records reviewed periodically, with initial data entry and annual follow-ups for the duration of the study or until they choose to withdraw. Genetic and tissue samples will be processed and stored securely. The main outcome is the development and maintenance of a comprehensive translational resource for HRFD over five years. The study does not require clinic visits and involves minimal participant burden while contributing valuable data and materials for ongoing research.

ARPKD Database Study