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New study aims to unravel mysteries of rare genetic disease

NCT ID NCT07213297

Knowledge-focused Sponsor: Hospital de Alta Complejidad en Red 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 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.

Study facts

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

Participants

About 20 people

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

Started

Nov 2025

Expected to finish

Dec 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

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

Who is studied

Participants over 18 years of age diagnosed with hereditary transthyretin amyloidosis with a pathogenic variant of the TTR gene confirmed by genetic testing, whether symptomatic and/or with suspected disease progression, as well as asymptomatic carriers of these variants, will be included.

Ages

18 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: -Participants with a pathogenic variant of the TTR gene (Hereditary Amyloidosis) Exclusion Criteria: * wild-type TTR amyloidosis

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Conditions

The condition(s) this trial relates to.

amyloidosis familial amyloid neuropathy hereditary amyloidosis

As listed by the trial registrant

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

Amyloidosis in transthyretin (TTR) Amyloidosis, familial

How to take part

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

  1. The places running it

    1 site. 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 Cuenca Alta de Cañuelas

    RECRUITING

    Canuelas, Buenos Aires, 1814, Argentina

More trials for these conditions

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