Institutional Registry of Rare Diseases

Sponsor
Hospital Italiano de Buenos Aires
Study ID
NCT06573723
Status
Recruiting
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Conditions

  • Amyloidosis
  • Congenital Adrenal Hyperplasia
  • Cushing Syndrome
  • Demyelinating Diseases
  • Eosinophilic Gastrointestinal Disorders
  • Gaucher Disease
  • HHT
  • Hemorrhagic Hereditary Telangiectasia
  • Hereditary Angioedema
  • Hirschsprung Disease
  • Hypertrophic Cardiomyopathy
  • Immunoglobulin G4-Related Disease
  • Inborn Errors of Metabolism
  • Inflammatory Bowel Diseases
  • Mastocytosis
  • Multiple Endocrine Neoplasia
  • Paraganglioma
  • Phacomatosis
  • Pheochromocytoma
  • Prader-Willi Syndrome
  • Pulmonary Hypertension
  • Rare Diseases
  • Sarcoidosis
  • Vascular Anomalies
  • Von Hippel-Lindau Disease
  • Wilson Disease

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jul 1, 2024
Status verified
Jan 2026
Primary completion
Dec 31, 2034
Completion
Dec 31, 2034

Study Design

Enrollment
380 participants (estimated)

Primary Outcome Measure

Overall Survival Rate [ Time Frame: From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years. ]

Central Contacts

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