NCT06573723Recruiting
Institutional Registry of Rare Diseases
Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)
Source: ClinicalTrials.gov · Last updated 14 Jan 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 380 (estimated)
- First submitted
- 6 Aug 2024
- Start date
- 1 Jul 2024
- Primary completion date
- 31 Dec 2034
- Lead sponsor
- Hospital Italiano de Buenos Aires
- Diseases
- Amyloidosis, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Gaucher disease, High blood pressure, Childhood cancers
- NCT number
- NCT06573723
What you commit to
- Study type: Observational
- Planned participants: 380
- From 1 Jul 2024 to the primary completion date, 31 Dec 2034
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- \- Refusal to participate in the study or in the informed consent process.
Who the study is looking for
- 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.
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hospital Italiano de Buenos Aires Coordinator of this site? Confirm its status | Buenos Aires | Argentina | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.