Registry Collecting Data on Several Rare Diseases in Buenos Aires
Collects health records from people with rare diseases such as amyloidosis and sarcoidosis.
Plain-language title generated from the registry record
Registry title: Institutional Registry of Rare Diseases
Key facts
- Where
- Buenos Aires, ArgentinaSee the site
Where in Argentina
- Hospital Italiano de Buenos AiresBuenos Aires, ArgentinaTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Hospital Italiano de Buenos Aires
- Trial code
- NCT06573723
- Record updated
- 14 January 2026
- Original description
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).Read full original descriptionShow less
Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
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.
Inclusion: Clinical and/or molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome; Must be followed at Hospital Italiano de Buenos Aires.
Exclusion: Refusal to participate in the study or in the informed consent process.