Rare gene variant under the microscope: new study aims to map disease patterns

NCT ID NCT07124377

Recruiting now Knowledge-focused Sponsor: Hospital 9 de Julio de Las Breñas Source: ClinicalTrials.gov ↗

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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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.

ATTRV30M amyloidosis familial amyloid neuropathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED

Contacts and locations

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Study contacts

Contact

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

Locations

Hospital las Breñas 9 de Julio
ENROLLING_BY_INVITATION

Charata, Chaco Province, 6300, Argentina
Hosptial Las Breñas
RECRUITING

Charata, Chaco Province, Argentina