Institutional Registry of Rare Diseases Observational Study at Hospital Italiano de Buenos Aires Collecting Data on Diagnosis, Treatment, and Outcomes

What this Trial Is About

Researchers are creating a large institutional registry to collect comprehensive data on various rare diseases. These diseases are challenging due to their complexity, low prevalence, and significant impact on health, including morbidity, mortality, and costs. The registry aims to better understand risk factors, prognosis, diagnosis, and treatment patterns to improve patient care and advance knowledge in this field. The registry will gather clinical and molecular data on patients diagnosed with a range of rare diseases, including Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, and others. This organized system will facilitate rapid and efficient data collection, enabling the study of disease progression, treatment responses, and differences across populations. The registry also plans to develop an alert system using electronic medical records to identify potential rare disease cases. Participants will be followed over time, with data collected on survival rates, disease progression, treatment modalities, and adverse events for up to five years. Researchers will assess demographic and clinical characteristics at enrollment and monitor outcomes such as time to first treatment and treatment responses. The study will also explore patient-reported outcomes and evaluate morbidity, mortality, and resource use associated with these diseases.

Institutional Registry of Rare Diseases