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Blood test could unmask hidden inherited nerve disease

NCT ID NCT03190577

Diagnosis Sponsor: Nantes University Hospital Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 14, 2026 · Last updated Sep 15, 2026 · Updated 1 time

Summary

Researchers want to know how many people with neuropathy of unknown cause carry a mutation in the TTR gene, which leads to a rare and potentially fatal inherited disease called familial amyloid neuropathy. The study enrolls up to 400 adults under 90 who have neuropathy confirmed by nerve tests or skin biopsy. Everyone gives a single blood sample that is checked for TTR mutations. The goal is to measure how common the mutation is in this group and to find the best way to screen neuropathy patients for it.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
a one-time blood draw for TTR genetic testing
What this could lead to
If the approach works, it could become standard practice to test people with unexplained neuropathy for TTR mutations early, catching the disease before organ damage sets in.
What could go wrong
This is an observational study, so it cannot prove that early testing improves outcomes. Most people tested will not carry a TTR mutation, and the study may not identify a clear testing strategy.

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

400 people

The number who actually took part.

Started

Sep 2017

Finished

May 2022

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: * Adult patient (male and female) aged not more than 90 years old * Patients with neuropathy identified by EDX exam or small fibre neuropathy identified from a skin biopsy. * Patients who have undergone the minimal assessment for neuropathy as defined by the HAS (French National Health Authority): biological analysis (fasting glucose, CBC, liver and renal functions, CRP, pituitary TSH) * Patients belonging to the social security system * Patient who gave written informed consent NON-INCLUSION CRITERIA Patients under legal supervision or guardianship Patients with a confirmed documented diagnosis of the cause of neuropathy Patients with evidence of Charcot Marie Tooth neuropathy: very slowly progressive course, pes cavus. Patients who have already been investigated for a TTR mutation Pregnant women Minors

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Conditions

The condition(s) this trial relates to.

Amyloid Neuropathies, Familial familial amyloid neuropathy

As listed by the trial registrant

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

Familial amyloid neuropathy Transthyretin amyloidosis

Contacts and locations

Locations

  • CHP Saint-Grégoire - Cabinet de Neurologie ENMG

    Saint-Grégoire, 35760, France

  • Ch La Rochelle

    La Rochelle, 17019, France

  • Ch Le Mans

    Le Mans, 72033, France

  • Ch Quimper

    Quimper, 29107, France

  • Ch Saint Brieuc

    Saint-Brieuc, 22000, France

  • Ch Saint Nazaire

    Saint-Nazaire, 44606, France

  • Chd La Roche Sur Yon

    La Roche-sur-Yon, 85000, France

  • Chru Brest

    Brest, 29609, France

  • Chru Tours

    Tours, 37044, France

  • Chu Angers

    Angers, 49000, France

  • Chu Nantes

    Nantes, France

  • Chu Poitiers

    Poitiers, 86021, France

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