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Can MRI and nerve tests catch a rare disease before symptoms start?

NCT ID NCT03588468

Knowledge-focused Sponsor: Assistance Publique Hopitaux De Marseille Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 2 times

Summary

This study looked at whether advanced MRI scans and a nerve test called MUNIX can detect the earliest signs of nerve damage in people who carry a gene mutation for familial amyloid neuropathy. Researchers studied 60 adults with the TTR mutation, comparing those with and without symptoms. The goal was to see if these tools could help doctors know exactly when to start treatment, avoiding both unnecessary side effects and delayed care.

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 could lead to better tools for detecting the earliest signs of disease in people with a genetic risk, allowing for timely treatment decisions.
What could go wrong
This is a small, early exploratory study, not a treatment trial. The new tests may not prove sensitive or specific enough to change clinical practice.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

60 people

The number who actually took part.

Started

Sep 2018

Finished

Dec 2019

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.

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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.

For a subject to be eligible, all of the inclusion criteria and none of the exclusion criteria must be met. 3.1.1. TTR mutation gene carriers 3.1.1.a. Inclusion criteria Subject must meet the following criteria to be included: * 18 years and older * Men or women * Carrying TTR mutation * Having social insurance * Given written informed consent after being informed of the purpose and potential risks 3.1.1.b. Exclusion criteria Subjects with the following criteria will be excluded: * Subject with a contraindication for MRI explorations * Subject unable to understand the purpose and conditions of carrying out the study, unable to give consent 3.1.2. Healthy controls 3.1.2.a. Inclusion criteria Subject must meet the following criteria to be included: * 18 years and older * Men or women * Having social insurance * Given written informed consent after being informed of the purpose and potential risks 3.1.2.b. Exclusion criteria Subjects with the following criteria will be excluded: * Subject with a contraindication for MRI explorations * Subject unable to understand the purpose and conditions of carrying out the study, unable to give consent

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Conditions

The condition(s) this trial relates to.

Amyloid Neuropathies familial amyloid neuropathy

As listed by the trial registrant

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

Amyloid neuropathies Transthyretin amyloidosis

Contacts and locations

Locations

  • Assistance Publique Des Hopitaux de Marseille

    Marseille, PACA, 13354, France

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