Clinical trial

Evaluation of a New Diagnostic Approach to Familial Amyloid Neuropathy by Mutation of the TTR Gene in a Population of Idiopathic Chronic Neuropathies

NCT03720275

Name

CHUBX 2016/35

Description

TTR-FAP is a rare disabling inherited disorder that predominantly affects the peripheral nervous system and the heart. Due to an important phenotypic and genetic heterogeneity, the diagnosis is often delayed, preventing therefore early onset treatment. Our project is to evaluate the prevalence of TTR-FAP in a series of 130 patients with from chronic neuropathy of undetermined aetiology through a systematic screening of TTR mutations.

Trial arms

Trial start

2018-11-27

Estimated PCD

2020-05-27

Trial end

2021-12-23

Status

Completed

Treatment

Systematic screening of TTR mutations

The diagnosis of TTR-FAP requires genetic analysis using direct sequencing of TTR gene.The diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene.

Arms:

patients with chronic neuropathy of unknown aetiology

Size

130

Primary endpoint

Diagnosis of TTR-FAP

Genetic analyzes will be performed every three months from the first inclusion

Eligibility criteria

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

Protocol

{'studyType': 'INTERVENTIONAL', 'phases': ['NA'], 'designInfo': {'allocation': 'NA', 'interventionModel': 'SINGLE_GROUP', 'primaryPurpose': 'DIAGNOSTIC', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 130, 'type': 'ACTUAL'}}

Updated at

2023-10-06

1 organization

1 product

2 indications

Organization

University Hospital Bordeaux

Product

TTR

Indication

Amyloid Neuropathies

Indication

Familial