Institutional Registry of Rare Diseases

Conditions studied

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, Cushing Syndrome, HHT, Hemorrhagic Hereditary Telangiectasia

About this study

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.

Primary outcomes

• Overall Survival Rate (From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.)
• Mortality Rate (From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.)
• Time to First Treatment (From date of diagnosis until the initiation of first treatment, assessed up to 12 months.)
• Demographic and Epidemiologic Profile (At baseline, assessed at the time of enrollment.)
• Clinical Characteristics and Disease Progression (From date of enrollment until the end of the study, assessed up to 5 years.)
• Treatment Modalities Received (From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.)
• Treatment Response (From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.)
• Incidence of Treatment-Related Adverse Events (From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.)