Rare gene variant under the microscope: new study aims to map disease patterns
NCT ID NCT07124377
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at 57 people aged 20 to 70 who carry the Val50Met gene variant linked to hereditary ATTR amyloidosis, a condition that can damage nerves and the heart. Researchers want to describe the different symptoms people experience, such as heart problems, nerve issues, or a mix of both. The goal is to better understand how the disease shows up in a region where this variant is not common.
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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 las Breñas 9 de Julio
ENROLLING_BY_INVITATIONCharata, Chaco Province, 6300, Argentina
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Hosptial Las Breñas
RECRUITINGCharata, Chaco Province, Argentina
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