New study aims to unravel mysteries of rare genetic disease

NCT ID NCT07213297

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This observational study will follow 20 adults with a confirmed genetic mutation for hereditary transthyretin amyloidosis (ATTR), a rare and serious condition that causes abnormal protein buildup in organs. Researchers will conduct thorough medical exams, heart tests, and neurological assessments to classify patients into different disease types and track how the condition changes over time. The goal is to better understand the disease and identify early signs of onset.

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 study could help doctors better understand and classify different forms of hereditary ATTR amyloidosis, potentially leading to earlier diagnosis and more personalized care.

What could go wrong

This is a small observational study (20 people) that does not test any treatment. It aims to gather information, not to cure or control the disease, so direct patient benefits are limited.

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for AMYLOIDOSIS IN TRANSTHYRETIN (TTR) are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

amyloidosis familial amyloid neuropathy hereditary amyloidosis

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: •••••@•••••

Locations

  • Hospital Cuenca Alta de Cañuelas

    RECRUITING

    Canuelas, Buenos Aires, 1814, Argentina

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