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

Not Applicable

Completed

• Conditions: Familial Amyloid Neuropathy; Transthyretin Amyloidosis
• Interventions: Genetic: blood sample

• Registration Number: NCT03190577
• Lead Sponsor: 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.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2017-06-14
• Study First Submitted QC: 2017-06-14
• Study First Posted: 2017-06-19
• Study Start: 2017-09-21
• Primary Completion: 2022-05-23
• Study Completion: 2022-05-23
• Status Verified: 2022-07
• Last Update Submitted: 2022-07-13
• Last Update Posted: 2022-07-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 400

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

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
patients with neuropathy of unknown aetiology	blood sample	from a blood sample performed at inclusion, a genetic analysis will be performed to research transthyretin mutation

Primary Outcome Measures

Name	Time	Method
to evaluate the prevalence of TTR amyloidosis	inclusion	number of patients with TTR mutation

Secondary Outcome Measures

Name	Time	Method
To identify risk factors of carrying TTR mutations amongst those presenting with "unknown aetiology" neuropathy	inclusion	comparison between patient of medical history, alcohol use, familial neuropathy history, age of first symptoms apparition, description of first symptoms
Description of the TTR-FAP cohort	inclusion	medical history, alcohol use, smoking habits, familial neuropathy history, age of first symptoms apparition, description of first symptoms

Trial Locations

Locations (12)

Chu Angers; 🇫🇷 Angers, France

Chu Poitiers; 🇫🇷 Poitiers, France

Ch Le Mans; 🇫🇷 Le Mans, France

Chu Nantes; 🇫🇷 Nantes, France

Ch Quimper; 🇫🇷 Quimper, France

Ch Saint Brieuc; 🇫🇷 Saint-Brieuc, France

Chru Brest; 🇫🇷 Brest, France

Chd La Roche Sur Yon; 🇫🇷 La Roche-sur-Yon, France

Ch La Rochelle; 🇫🇷 La Rochelle, France

Ch Saint Nazaire; 🇫🇷 Saint-Nazaire, France

Chru Tours; 🇫🇷 Tours, France

CHP Saint-Grégoire - Cabinet de Neurologie ENMG; 🇫🇷 Saint-Grégoire, France