Institutional Registry of Rare Diseases

The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.

NCT Number	NCT06573723
Lead Sponsor	Hospital Italiano de Buenos Aires
Conditions	Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease +18 more
Enrollment	380 participants
Start Date	2024-07-01
Primary Completion	2034-12-31 (estimated)
Study Completion	2034-12-31 (estimated)
Updated on ClinicalTrials.gov	2026-01-14