Clinical trial NCT04828928: Neuropathy in Patients Monitored for Wild-type TTR Cardiac Amyloidosis (Non-mutated)
Official title: Prospective Study to Investigate Neuropathy in Patients Monitored for Wild-type TTR Cardiac Amyloidosis (Non-mutated)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Wild-type Amyloid Cardiopathy
Keywords: wild-type amyloid cardiopathy
neuropathy
descriptive study
Lead sponsor: University Hospital, Bordeaux
Sponsor class: OTHER
First posted: 2021-04-02
Enrollment: 65
Sex: ALL
Minimum age (years): 18
Maximum age (years): 100
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.

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

Primary outcomes:
measure: Presence of a clinical and/or electrophysiological neuropathy
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
Secondary outcomes:
measure: Clinical data of patients with polyneuropathy with no identified etiology: Epidemiological characteristics
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: history characteristics
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Heart attack
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Clinical scores - KARNOFSKI index
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Clinical scores - NIS-LL-
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Clinical scores - ONLS-
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Clinical scores - RODS-
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Clinical scores - CADT-
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Clinical scores -MoCA-
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Clinical data of patients with polyneuropathy with no identified etiology: Electrophysiological data
timeFrame: within 6 months of inclusion (at the time of the electromyogram)
measure: Estimation of the frequency of the presence of neuropathy in our study population in order to compare it to a reference population
timeFrame: 24 months
Other outcomes:
Locations:
city: Bordeaux
country: France
facility: CHU de Bordeaux
city: Nantes
country: France
facility: CHU de Nantes
city: Toulouse
country: France
facility: CHU de Toulouse
Study officials:
affiliation: Université Hospital, Bordeaux
name: Guilhem SOLE, MD
role: PRINCIPAL_INVESTIGATOR
References: