Neuropathy in Patients Monitored for Wild-type TTR Cardiac Amyloidosis (Non-mutated)

University Hospital, Bordeaux65 enrolled

Overview

Transthyretin (TTR) amyloidosis is a rare disabling disorder that can be hereditary or sporadic. Depending on the form, various tissues are affected. While in hereditary cases, neuropathy is predominant, cardiac impairment is the main manifestation in the sporadic form. The main objective of this project is to evaluate the proportion of patients with neuropathy in a population of patients with a non-mutated TTR amyloid cardiopathy condition.

Transthyretin (TTR) amyloidosis belongs to a group of severe and multi-systemic diseases caused by an extracellular accumulation of fibrillar proteins arranged in beta-pleated sheets. This pathology can be hereditary (mutations in the TTR gene) or sporadic. Depending on the form, various tissues are affected: peripheral nervous system (leading to neuropathy, especially vegetative), heart, kidney... While in forms linked to TTR mutations neuropathy is the main manifestation, in the sporadic form (also called wild-type), the cardiac impairment is predominant. Other organ damages are rarely reported in this second form. In the THAOS registry (Coelho T. et al, 2013), a clinical peripheral neuropathy is reported in 28.4% out of 67 patients with the sporadic form of the disease, although the authors do not provide a precise description of the neuropathy type. We propose to prospectively study patients with a wild-type amyloid cardiopathy condition to identify and describe the associated neuropathy. A pilot study conducted at the Bordeaux University Hospital demonstrated the feasibility and interest of this research: it showed the presence of an undetermined aetiology polyneuropathy in 35.7% out of 14 patients followed for senile cardiac amyloidosis. Tafamidis is used on familial amyloid neuropathy and a recent study shows an effect on senile amyloid cardiopathy (Maurer MS et al., 2018) which strengthens the need to determine the frequency of neuropathies associated with wild-type amyloid cardiopathy and to type them more accurately.

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

Conditions

Wild-type Amyloid Cardiopathy

Interventions

electromyogramPROCEDURE

Patients meeting the criteria will be seen in consultation with standardized interview and clinical examination. An electromyogram will be then carried out to check for the presence of neuropathy. Finally, for patients diagnosed with neuropathy, a biological check-up to look for another cause of neuropathy will be performed. In patients who already had an EMG as part of their medical follow-up, the examination will not be repeated if it strictly meets the conditions of the minimum protocol and if it was done within the year prior to inclusion. In patients who already had an identical biological assessment in the year prior to inclusion, the sample will not be taken.

Eligibility

Sex: ALLMin age: 18 YearsMax age: 100 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Patients of both gender, over 18 years old, with transthyretin amyloid cardiopathy according to one of the two American Heart Association definitions of 2016 * No mutation in the TTR gene * Patients giving their free and informed consent to participate after information about the research * Patients affiliated to or benefiting from a social security scheme Exclusion Criteria: * Patients with chronic neuropathy related to a known aetiology * Patients under guardianship or curatorship

Locations (3)

CHU de Bordeaux

Bordeaux, France

CHU de Nantes

Nantes, France

CHU de Toulouse

Toulouse, France

Outcomes

Primary Outcomes

Presence of a clinical and/or electrophysiological neuropathy

The diagnosis of peripheral neuropathy should meet P.J. Dyck's definition of peripheral neuropathy (New England Journal of Medicine, 1982), based on: * the clinical judgment resulting from the standardized clinical examination (carried out by an expert neurologist) and according to the HAS recommendations on the diagnosis of peripheral neuropathies; * electrophysiological abnormalities, interpreted in the clinical context, after an examination carried out by an expert neurophysiologist.

Time frame: within 6 months of inclusion (at the time of the electromyogram)

Secondary Outcomes

Clinical data of patients with polyneuropathy with no identified etiology: Epidemiological characteristics

age, sex, age at diagnosis, age at assessment

Time frame: within 6 months of inclusion (at the time of the electromyogram)

Clinical data of patients with polyneuropathy with no identified etiology: history characteristics

carpal tunnel, diabetes, narrow cervical canal, alcohol consumption, radiculalgia in the lower limbs

Time frame: within 6 months of inclusion (at the time of the electromyogram)

Clinical data of patients with polyneuropathy with no identified etiology: Heart attack

Heart failure ( yes/no), pacemaker (Yes/no) and Functional classification of heart disease according to the New York Heart Association (NYHA) score. The NYHA score is a classification in 4 stages of increasing severity is proposed by the New York Heart Association, it is based on the intensity of the symptoms: I: Asymptomatic, discomfort during exceptional efforts. II: Moderate discomfort for significant efforts. III: Discomfort felt during moderate efforts. IV: Discomfort during the slightest effort or at rest. Référence: Hurst Hurst JW, Morris DC, Alexander RW. The use of the New York Heart Association's classification of cardiovascular disease as part of the patient's complete Problem List. Clin Cardiol . JW, Morris DC, Alexander RW. L'utilisation de la New York Heart Association de classification du des maladies cardiovasculaires dans le cadre du patient compléter la liste des problèmes. Clin Cardiol. 1999 Jun ;22 (6):385-90.

Data from ClinicalTrials.gov

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