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

NCT ID: NCT04828928

Last Updated: 2023-10-06

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 65 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-03-23
• Study Completion Date: 2023-03-31

Brief Summary

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.

Detailed Description

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.

Conditions

Wild-type Amyloid Cardiopathy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

proportion of patients with neuropathy

to prospectively study patients with a wild-type amyloid cardiopathy condition to identify and describe the associated neuropathy

Group Type: EXPERIMENTAL

electromyogram

Intervention Type: PROCEDURE

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.

Interventions

electromyogram

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.

Intervention Type: PROCEDURE

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Bordeaux

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Guilhem SOLE, MD

Role: PRINCIPAL_INVESTIGATOR

Université Hospital, Bordeaux

Locations

CHU de Bordeaux

Bordeaux, , France

CHU de Nantes

Nantes, , France

CHU de Toulouse

Toulouse, , France

Countries

France

Other Identifiers

CHUBX 2020/27

Identifier Type: -

Identifier Source: org_study_id