Registry for Rare Diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to create a comprehensive registry that collects data on various rare diseases, including amyloidosis and sarcoidosis. By consolidating clinical features and patient-reported outcomes, the registry seeks to enhance understanding of these conditions and improve diagnosis and treatment patterns. The study will utilize electronic medical records to identify potential cases and analyze the effectiveness of existing therapies. Ultimately, it aims to facilitate research and generate hypotheses for future studies.

Why it matters

Who can join: the full rules

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.

Where it's running

• Hospital Italiano de Buenos Aires
  Buenos Aires, Buenos Aires, Argentina Recruiting

Study contacts

• Principal investigator: Marcelo Serra, PhD — Hiba
• Study coordinator: Maria Lourdes Posadas Martinez, PhD
• Email: maria.posadas@hospitalitaliano.org.ar
• Phone: +54 11 49590200

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.