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New genetic test may uncover hidden nerve disease in patients with unexplained symptoms

NCT ID NCT03720275

Diagnosis Sponsor: University Hospital, Bordeaux 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study tested a new genetic screening approach to find cases of a rare inherited nerve disease called TTR-FAP in 130 patients with chronic neuropathy of unknown cause. The goal was to see how many of these patients actually have TTR-FAP, which is often missed due to varied symptoms. By using a simple blood test to look for TTR gene mutations, researchers hope to speed up diagnosis and allow earlier treatment.

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

130 people

The number who actually took part.

Started

Nov 2018

Finished

Dec 2021

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 to 90 years

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: * Patients of both sexes presenting chronically (\> 3 months): * neuropathy confirmed by an electroneuromyography * without obvious etiology (diabetes, alcohol consumption, renal insufficiency, neurotoxic substances intake, family history of diagnosed hereditary neuropathy) * without anomaly of the following biological examinations: fasting blood glucose, blood count, gamma-glutamyl transferases, average cell volume, transaminases, serum creatinine clearance, C-reactive protein, TSH * Aged 18 to 90 years Patients giving their free and informed consent to participate, after research information Exclusion Criteria: * People placed under the protection of justice. * Patients who are not affiliated or who are not beneficiaries of a social security scheme * Patients with chronic neuropathy related to a known etiology

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Conditions

The condition(s) this trial relates to.

Amyloid Neuropathies, Familial chronic idiopathic neuropathy familial amyloid neuropathy

As listed by the trial registrant

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

Amyloid neuropathies, familial

Contacts and locations

Locations

  • Reference center for neuromuscular diseases

    Bordeaux, 33076, France

More trials for these conditions

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