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.
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.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Hospital Cuenca Alta de Cañuelas
RECRUITINGCanuelas, Buenos Aires, 1814, Argentina
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Other studies related to the condition(s) this trial covers.