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Search / Trial NCT06573723

Institutional Registry of Rare Diseases

Launched by HOSPITAL ITALIANO DE BUENOS AIRES · Aug 23, 2024

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Trial Information

Current as of June 26, 2025

Recruiting

Keywords

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

ClinConnect Summary

This clinical trial, called the Institutional Registry of Rare Diseases, aims to gather information about various rare diseases, including conditions like amyloidosis, sarcoidosis, and Wilson disease, among others. The goal is to create a comprehensive database that will help healthcare providers identify and understand these diseases better. By collecting data from patients' medical records, the study will also establish a system to alert doctors about potential cases of these rare diseases and explore how patients are diagnosed and treated. Additionally, it will look into patients’ experiences and outcomes related to their conditions.

To participate in this study, individuals must have a confirmed diagnosis of one of the listed rare diseases and be receiving care at Hospital Italiano de Buenos Aires. There are no age or gender restrictions for participation. Patients who join the study can expect to contribute to valuable research that may improve the understanding and treatment of rare diseases, while also helping to shape future healthcare approaches. It's important to note that participants need to provide their consent to be part of the study.

Gender

ALL

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 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.
  • Exclusion Criteria:
  • • - Refusal to participate in the study or in the informed consent process.

About Hospital Italiano De Buenos Aires

Hospital Italiano de Buenos Aires is a leading healthcare institution dedicated to advancing medical research and patient care. Renowned for its commitment to clinical excellence and innovation, the hospital actively participates in a range of clinical trials aimed at developing new treatment modalities and improving healthcare outcomes. With a multidisciplinary team of experienced healthcare professionals, Hospital Italiano combines cutting-edge technology with a patient-centered approach, ensuring the highest standards of safety and efficacy in all research endeavors. As a trusted sponsor, the hospital is committed to contributing to the global medical community through rigorous scientific investigations and collaboration with various stakeholders.

Locations

Buenos Aires, , Argentina

Patients applied

0 patients applied

Trial Officials

Marcelo Serra, PhD

Principal Investigator

HIBA

Soledad Kleppe, MD

Principal Investigator

HIBA

Maria Lourdes Posadas Martinez, PhD

Principal Investigator

HIBA

Luis Mazzuoccolo, MD

Study Chair

HIBA - dermatología

María Fabiana Russo Picasso, MD

Study Chair

HIBA - endocrinología

Eduardo Jorge Premoli, MD

Study Chair

HIBA - oftalmología

Mariano Martín Marcolongo, MD

Study Chair

HIBA - gastroenterología

Javier Pollan, MD

Study Chair

HIBA - clínica médica

Adrian Gadano, MD

Study Chair

HIBA - investigación

Pablo Lobos, MD

Study Chair

HIBA - cirugía pediátrica

Hernan Garcia Rivello, MD

Study Chair

HIBA - patología clínica

Marcelo Risk, PhD

Study Chair

IMTIB

Marcelo Rugiero, MD

Study Chair

HIBA - neurología

Julio Busaniche, MD

Study Chair

HIBA - clínica pediátrica

Rodolfo Pizarro, MD

Study Chair

HIBA - cardiología

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported