New registry aims to unlock secrets of rare diseases

NCT ID NCT06573723

Recruiting now Knowledge-focused Sponsor: Hospital Italiano de Buenos Aires Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis and care for these often-misunderstood conditions.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this registry could help doctors spot rare diseases earlier and better understand how they progress and respond to treatments.
What could go wrong: This is an observational study, not a treatment trial, so it won't directly test new therapies. Results depend on data quality and may not apply to all patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

amyloidosis congenital adrenal hyperplasia Cushing syndrome demyelinating disease eosinophilic esophagitis eosinophilic gastrointestinal disease Gaucher disease hereditary angioedema hereditary hemorrhagic telangiectasia Hirschsprung disease hypertrophic cardiomyopathy Immunoglobulin G4-Related Disease immunoglobulin G4-related sclerosing disease inborn errors of metabolism inflammatory bowel disease mastocytosis multiple endocrine neoplasia neurocutaneous syndrome paraganglioma pheochromocytoma Prader-Willi syndrome pulmonary hypertension Rare Diseases sarcoidosis telangiectasia, hereditary hemorrhagic, type 1 vascular malformation von Hippel-Lindau disease Wilson disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

AMYLOIDOSIS CONGENITAL ADRENAL HYPERPLASIA CUSHING SYNDROME DEMYELINATING DISEASES EOSINOPHILIC GASTROINTESTINAL DISORDERS GAUCHER DISEASE HEMORRHAGIC HEREDITARY TELANGIECTASIA HEREDITARY ANGIOEDEMA HHT 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

Contacts and locations

Locations

Hospital Italiano de Buenos Aires
RECRUITING

Buenos Aires, Buenos Aires, C1199ABB, Argentina

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