MedTrace Logo

Early and Systematic Screening in Chronic Neuropathy

NCT03720275 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 130

Last updated 2023-10-06

No results posted yet for this study

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.

Conditions

  • Amyloid Neuropathies, Familial

Interventions

GENETIC

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.

Sponsors & Collaborators

  • University of Bordeaux

    collaborator OTHER

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Guilhem Solé, MD · University Hospital Bordeaux, France

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
90 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-11-27
Primary Completion
2020-05-27
Completion
2021-12-23

Countries

  • France

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03720275 on ClinicalTrials.gov