Institutional Registry of Rare Diseases
Recruiting
Observational Study
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
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 380 (estimated)
- Sponsor
- Hospital Italiano de Buenos Aires · Other
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About This Trial
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,…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* 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 G…
Contacts