Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology (PRE-TRANS)

September 10, 2026 updated by: Nantes University Hospital
Familial amyloid neuropathy due to transthyretin gene mutations (TTR-FAP) is a rare autosomal dominant inherited disease resulting in the abnormal multi-system deposition of amyloid proteins. These deposits produce a multi-organ disease. AP is usually fatal 10 to 15 years after onset of symptoms if untreated. The prevalence of the disease remains still poorly understood and usually the search for this pathology is done in a third line of investigation. So the average time to diagnosis is extremely long, from 12 to 24 month. Now that the investigators have etiological treatment ( famidis (Vyndaqel®) and Diflunisal (Dolobid)) of this disease, it is essential to be able to detect FAP patients as early as possible. With this study, investigator decided to test for TTR mutation all patients presented with neuropathy of unknown etiology at the first line of investigation. The goal of this study is to evaluate the prevalence of FAP-TTR among neuropathy and defined the best strategy to test this population for TTR mutations.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

400

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Angers, France, 49000
        • CHU Angers
      • Brest, France, 29609
        • CHRU Brest
      • La Roche-sur-Yon, France, 85000
        • CHD La Roche Sur YON
      • La Rochelle, France, 17019
        • CH La Rochelle
      • Le Mans, France, 72033
        • CH Le Mans
      • Nantes, France
        • CHU Nantes
      • Poitiers, France, 86021
        • CHU Poitiers
      • Quimper, France, 29107
        • Ch Quimper
      • Saint-Brieuc, France, 22000
        • CH Saint Brieuc
      • Saint-Grégoire, France, 35760
        • CHP Saint-Grégoire - Cabinet de Neurologie ENMG
      • Saint-Nazaire, France, 44606
        • CH Saint Nazaire
      • Tours, France, 37044
        • Chru Tours

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 90 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: patients with neuropathy of unknown aetiology
from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation
Genetic: blood sample
two 5 ML EDTA tubes of blood will be collected once by patient

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
to evaluate the prevalence of TTR amyloidosis
Time Frame: inclusion
number of patients with TTR mutation
inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy
Time Frame: inclusion
comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms
inclusion
Description of the TTR-FAP cohort
Time Frame: inclusion
medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms
inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nantes University Hospital

Collaborators

Pfizer

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 21, 2017

Primary Completion (Actual)

May 23, 2022

Study Completion (Actual)

May 23, 2022

Study Registration Dates

First Submitted

June 14, 2017

First Submitted That Met QC Criteria

June 14, 2017

First Posted (Actual)

June 19, 2017

Study Record Updates

Last Update Posted (Actual)

September 14, 2026

Last Update Submitted That Met QC Criteria

September 10, 2026

Last Verified

July 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RC16_0427

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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