Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

400 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-09-21

Study Completion Date

2022-05-23

Brief Summary

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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.

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Detailed Description

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Conditions

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Familial Amyloid Neuropathy Transthyretin Amyloidosis

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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patients with neuropathy of unknown aetiology

from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation

Group Type EXPERIMENTAL

blood sample

Intervention Type GENETIC

two 5 ML EDTA tubes of blood will be collected once by patient

Interventions

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blood sample

two 5 ML EDTA tubes of blood will be collected once by patient

Intervention Type GENETIC

Eligibility Criteria

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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

Patients who have already been investigated for a TTR mutation Pregnant women Minors

Minimum Eligible Age

18 Years

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No