Early and Systematic Screening in Chronic Neuropathy

NCT03720275 | Completed DMC

• 1 other identifier: CHUBX 2016/35
• Study Type: interventional
• Target: 130
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

proportion, TTR-FAP, study, neuropathy

Outcome Measures

Primary Outcomes (1)

• Diagnosis of TTR-FAP

  Proportion of TTR-FAP in the 130 patients with chronic neuropathy of unknown aetiology

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

Secondary Outcomes (14)

• Age of patient at diagnosis

  at the inclusion visit

• History of dysautonomias

  at the inclusion visit

• Signs of dysautonomias

  at the inclusion visit

• Weight of patient

  at the inclusion visit

• Height of patient

  at the inclusion visit

Study Arms (1)

patients with chronic neuropathy of unknown aetiology

EXPERIMENTAL

For the 130 patients with chronic neuropathy of unknown aetiology, the diagnosis of TTR-FAP will be performed using standard procedures following international recommendations, requiring genetic analysis of the TTR gene.

Genetic: Systematic screening of TTR mutations

Interventions

Systematic screening of TTR mutations GENETIC

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.

patients with chronic neuropathy of unknown aetiology

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Bordeaux: lead
• University of Bordeaux: collaborator

Study Sites (1)

Reference center for neuromuscular diseases

Bordeaux, 33076, France

Location

MeSH Terms

Conditions

Amyloid Neuropathies, Familial

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Amyloid Neuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amyloidosis, Familial; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Amyloidosis; Proteostasis Deficiencies

Study Officials

• Guilhem Solé, MD

  University Hospital Bordeaux, France

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 12, 2018
• First Posted: October 25, 2018
• Study Start: November 27, 2018
• Primary Completion: May 27, 2020
• Study Completion: December 23, 2021
• Last Updated: October 6, 2023

Record last verified: 2023-10

Locations

FR (1)