Hospital Italiano de Buenos Aires Registry for Patients with Rare Diseases Including Amyloidosis, Sarcoidosis, and Related Conditions

What this Trial Is About

Researchers are conducting an observational study to create a comprehensive registry system that collects data on various rare diseases RD. The goal is to group different rare diseases together to better understand their clinical features, diagnosis, treatments, and patient outcomes. This registry aims to support research by improving knowledge about risk factors, disease progression, and resource use related to rare diseases. The study focuses on gathering data from patients with clinical or molecular diagnoses of specific rare diseases such as Amyloidosis, Sarcoidosis, Phacomatosis, and many others. Data is collected systematically from electronic medical records and patient reports to describe disease occurrence, diagnosis patterns, treatment modalities, and responses. The registry also plans to develop an alert system to identify possible rare disease cases from medical records. Participants are observed over time with data collected on survival rates, mortality, treatment timelines, clinical characteristics, and adverse events related to treatment. Researchers assess outcomes up to five years after enrollment, including time to first treatment and treatment responses. Patient-reported outcomes and demographic profiles are also recorded to understand the impact of rare diseases. The study spans multiple years, aiming to enhance disease knowledge and support future research and patient care improvements.

Institutional Registry of Rare Diseases