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Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology (PRE-TRANS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03190577
Recruitment Status : Recruiting
First Posted : June 19, 2017
Last Update Posted : April 25, 2019
Information provided by (Responsible Party):
Nantes University Hospital

Brief Summary:
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 the investigators 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 this study, investigator 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.

Condition or disease Intervention/treatment Phase
Familial Amyloid Neuropathy Transthyretin Amyloidosis Genetic: blood sample Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 400 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Assessment of the Prevalence of TTR Amyloid Neuropathy in a Population of Patients With Neuropathy of Unknown Aetiology
Actual Study Start Date : September 21, 2017
Estimated Primary Completion Date : January 30, 2021
Estimated Study Completion Date : January 30, 2021

Arm Intervention/treatment
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

Primary Outcome Measures :
  1. to evaluate the prevalence of TTR amyloidosis [ Time Frame: inclusion ]
    number of patients with TTR mutation

Secondary Outcome Measures :
  1. To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy [ Time Frame: inclusion ]
    comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms

  2. Description of the TTR-FAP cohort [ Time Frame: inclusion ]
    medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03190577

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Chu Angers Not yet recruiting
Angers, France, 49000
Contact: julien Chassereau, MD         
Sub-Investigator: Vivien PAUTOT, MD         
Chru Brest Recruiting
Brest, France, 29609
Contact: STEEVE GENESTET, MD         
Chd La Roche Sur Yon Active, not recruiting
La Roche-sur-Yon, France, 85000
Ch La Rochelle Recruiting
La Rochelle, France, 17019
Contact: KARINE BOYER, MD         
Ch Le Mans Recruiting
Le Mans, France, 72033
Contact: YOLAINE OLLIVIER, MD         
Chu Nantes Recruiting
Nantes, France
Contact: ARMELLE MAGOT         
Chu Poitiers Recruiting
Poitiers, France, 86021
Contact: BARON Clément, MD         
Ch Quimper Recruiting
Quimper, France, 29107
Contact: Maud LEPETIT, MD         
Ch Saint Brieuc Recruiting
Saint-Brieuc, France, 22000
Contact: BENOIT PEGAT, MD         
CHP Saint-Grégoire - Cabinet de Neurologie ENMG Not yet recruiting
Saint-Grégoire, France, 35760
Contact: Morgane PIHAN, MD         
Ch Saint Nazaire Recruiting
Saint-Nazaire, France, 44606
Contact: Lucie METZGER, MD         
Chru Tours Active, not recruiting
Tours, France, 37044
Sponsors and Collaborators
Nantes University Hospital

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Responsible Party: Nantes University Hospital Identifier: NCT03190577     History of Changes
Other Study ID Numbers: RC16_0427
First Posted: June 19, 2017    Key Record Dates
Last Update Posted: April 25, 2019
Last Verified: April 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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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:
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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