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Early and Systematic Screening in Chronic Neuropathy
Sponsor: University Hospital, Bordeaux
Summary
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.
Official title: Evaluation of a New Diagnostic Approach to Familial Amyloid Neuropathy by Mutation of the TTR Gene in a Population of Idiopathic Chronic Neuropathies
Key Details
Gender
All
Age Range
18 Years - 90 Years
Study Type
INTERVENTIONAL
Enrollment
130
Start Date
2018-11-27
Completion Date
2021-12-23
Last Updated
2026-06-02
Healthy Volunteers
No
Conditions
Interventions
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.
Locations (1)
Reference center for neuromuscular diseases
Bordeaux, France