Institutional Registry of Rare Diseases

Summary

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.

Conditions

• 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

Sponsors & Collaborators

• Hospital Italiano de Buenos Aires

  lead OTHER

Principal Investigators

• Marcelo Serra, PhD · HIBA

• Soledad Kleppe, MD · HIBA

• Maria Lourdes Posadas Martinez, PhD · HIBA

• Luis Mazzuoccolo, MD · HIBA - dermatología

• María Fabiana Russo Picasso, MD · HIBA - endocrinología

• Eduardo Jorge Premoli, MD · HIBA - oftalmología

• Mariano Martín Marcolongo, MD · HIBA - gastroenterología

• Javier Pollan, MD · HIBA - clínica médica

• Adrian Gadano, MD · HIBA - investigación

• Pablo Lobos, MD · HIBA - cirugía pediátrica

• Hernan Garcia Rivello, MD · HIBA - patología clínica

• Marcelo Risk, PhD · IMTIB

• Marcelo Rugiero, MD · HIBA - neurología

• Julio Busaniche, MD · HIBA - clínica pediátrica

• Rodolfo Pizarro, MD · HIBA - cardiología

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2024-07-01

Primary Completion

2034-12-31

Completion

2034-12-31

Countries

• Argentina