New registry aims to unlock secrets of rare diseases

NCT ID NCT06573723

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.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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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.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Hospital Italiano de Buenos Aires

    RECRUITING

    Buenos Aires, Buenos Aires, C1199ABB, Argentina

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