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

Original post, click here
This study is not yet open for participant recruitment.


Verified June 2017 by Nantes University Hospital




Information provided by (Responsible Party):

Nantes University Hospital Identifier:


First received: June 14, 2017

Last updated: June 14, 2017

Last verified: June 2017

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 we 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 our study, we 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.

Familial Amyloid Neuropathy Transthyretin Amyloidosis Genetic: blood sample

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: No masking
Primary Purpose: Diagnostic
Official Title: Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology

Primary Outcome Measures:

Secondary Outcome Measures:

  • To identify patients “at risk” of carrying TTR mutations amongst those presenting with “unknown aetiology” neuropathy [ Time Frame: inclusion ]

    clinical questionnaire, phenotypic presenting features

  • To define the diagnostic strategies for TTR-FAP [ Time Frame: inclusion ]

    phenotypic presenting features in order to determine whether the test used in this study should be deployed routinely in the diagnostic investigation of patients with unknown etiologic neuropathy.

  • Description of the TTR-FAP cohort [ Time Frame: inclusion ]

    clinical questionnaire, phenotypic presenting features

Estimated Enrollment: 400
Anticipated Study Start Date: June 30, 2017
Estimated Study Completion Date: January 30, 2021
Estimated Primary Completion Date: January 30, 2021 (Final data collection date for primary outcome measure)
Experimental: patients with neuropathy of unknown aetiology

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

Genetic: blood sample

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

Ages Eligible for Study:   18 Years to 90 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

NON-INCLUSION CRITERIA Patients under legal supervision or guardianship Patients with a confirmed documented diagnosis of the cause of neuropathy Patients with evidence of Charcot Marie Tooth neuropathy: very slowly progressive course, pes cavus.

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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT03190577

Chu Angers
Angers, France, 49000
Contact: julien Chassereau, MD         
Sub-Investigator: Vivien PAUTOT, MD         
Chru Brest
Brest, France, 29609
Contact: STEEVE GENESTET, MD         
Chd La Roche Sur Yon
La Roche-sur-Yon, France, 85000
Contact: Pascal LEJEUNE, MD         
Ch La Rochelle
La Rochelle, France, 17019
Ch Le Mans
Le Mans, France, 72033
Contact: YOLAINE OLLIVIER, MD         
Chu Poitiers
Poitiers, France, 86021
Contact: DAHIMENE FAYCAL, MD         
Ch Quimper
Quimper, France, 29107
Contact: Maud LEPETIT, MD         
Chu Rennes
Rennes, France, 35033
Contact: Morgane PIHAN, MD         
Ch Saint Brieuc
Saint-Brieuc, France, 22000
Contact: BENOIT PEGAT, MD         
Ch Saint Nazaire
Saint-Nazaire, France, 44606
Contact: Lucie METZGER, MD         
Chru Tours
Tours, France, 37044
Contact: Julien PRALINE, MD         

Nantes University Hospital


Responsible Party: Nantes University Hospital Identifier: NCT03190577     History of Changes
Other Study ID Numbers: RC16_0427
Study First Received: June 14, 2017
Last Updated: June 14, 2017
Individual Participant Data  
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Nantes University Hospital:

Transthyretin mutation

Additional relevant MeSH terms:

Peripheral Nervous System Diseases
Amyloid Neuropathies
Amyloid Neuropathies, Familial
Neuromuscular Diseases
Nervous System Diseases
Proteostasis Deficiencies
Metabolic Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Amyloidosis, Familial
Metabolism, Inborn Errors processed this record on June 19, 2017