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

NCT ID NCT07124377

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 57 people

The number the study aims to enrol. It can still change while the study runs.

Started

Sep 2024

Expected to finish

Mar 2027

An estimate. End dates often move.

Lead sponsor

A government agency

The lead sponsor is a government body.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

All subjects between 20 and 70 years of age, carriers of the Val50Met variant from August 1st ,2024 to December 30st, 2025, belonging to a cluster of hereditary Transthyretin Amyloidosis will be included

Ages

20 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * All subjects between 20 and 70 years of age, carriers of the Val50Met variant Exclusion Criteria: * Patients who refuse to participate.

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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

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    2 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Hospital las Breñas 9 de Julio

    ENROLLING_BY_INVITATION

    Charata, Chaco Province, 6300, Argentina

  • Hosptial Las Breñas

    RECRUITING

    Charata, Chaco Province, Argentina

More trials for these conditions

Other studies related to the condition(s) this trial covers.