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
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This is a summary of
the original study
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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.
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.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Hospital Cuenca Alta de Cañuelas
RECRUITINGCanuelas, Buenos Aires, 1814, Argentina
Contact Phone: •••-•••-•••• Email: •••••@•••••