Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM) in Patients With Idiopathic Peripheral Neuropathy

Sponsor

University Hospital, Antwerp (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT04985734

Collaborator

(none)

200

Enrollment

Location

Arm

Anticipated Duration (Months)

4.4

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The goal of the present study is to determine the occurrence of wild-type and hereditary transthyretin amyloidosis cardiomyopathy among patients with the diagnosis of idiopathic peripheral neuropathy in the setting of a state-of-the-art diagnostic work-up; the investigators believe that the identification of patients with ATTR-CM in this setting can contribute to the early diagnosis of a largely underrecognized condition and, therefore, offer conditions to timely initiation of appropriate therapy with impact on prognosis of patients.

Condition or Disease	Intervention/Treatment	Phase
Amyloidosis Cardiac Amyloid Polyneuropathy Amyloidosis Heart Failure Cardiomyopathy Non-Dilated Cardiomyopathies, Secondary	Diagnostic Test: Specific diagnostic work-up for ATTR-CM patients	N/A

Detailed Description

Background. Different studies have described the value of amyloidosis screening in different clinical settings. The investigators hypothesize that in a relevant yet undetermined proportion of patients with idiopathic peripheral neuropathy a concomitant diagnosis of transthyretin amyloidosis cardiomyopathy can be made with a modern diagnostic work-up based on Technetium-scintigraphy as the primary screening tool. Further the investigators believe that the identification of these patients can lead to early initiation of therapy and modification of the prognosis of the disease.

Objective. To study the occurrence of transthyretin amyloidosis cardiomyopathy in patients with a diagnosis of idiopathic peripheral neuropathy using Tc-scinfigraphy as the primary screening tool.

Methods. This will be a prospective longitudinal cohort of adult patients with the diagnosis of idiopathic peripheral neuropathy. All patients will be submitted to a cardiologic evaluation that will include clinical evaluation, laboratory tests, electrocardiogram and echocardiography. For the diagnosis of amyloidosis all patients will be submitted to 99mTc-Methyl-Diphosphonate scintigraphy. Those with a positive result (grade 2 to 3 cardiac uptake) will be considered as having diagnosis of transthyretin amyloidosis cardiomyopathy and will be further submitted to genetic testing for transthyretin mutation; patients with abnormal scintigraphic results that do not meet current semi-quantitative diagnostic criteria will be submitted to additional investigation, that will include magnetic resonance heart imaging and fat biopsy. All patients will receive standard care for heart failure and transthyretin amyloidosis cardiomyopathy and will be follow-up every 6 months with clinical parameters, quality life questionnaire, ergospirometer and echocardiogram Perspectives. The investigators believe that the identification of patients with transthyretin amyloidosis cardiomyopathy in this setting can contribute to the early diagnosis of a largely underrecognized condition and, therefore, offer conditions to timely initiate appropriate therapy with impact on prognosis of patients.

Study Design

Study Type:

Interventional

Anticipated Enrollment :

200 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Intervention Model Description:

Cohort of patientsCohort of patients

Masking:

None (Open Label)

Primary Purpose:

Diagnostic

Official Title:

Study on the Occurrence of Transthyretin Amyloidosis Cardiomyopathy in Patients With Idiopathic Peripheral Neuropathy

Anticipated Study Start Date :

Oct 1, 2021

Anticipated Primary Completion Date :

Jan 1, 2025

Anticipated Study Completion Date :

Jul 1, 2025

Arms and Interventions

Arm	Intervention/Treatment
Experimental: Patients under diagnostic work-up	Diagnostic Test: Specific diagnostic work-up for ATTR-CM patients Technetium-scintigraphy

Arm

Intervention/Treatment

Experimental: Patients under diagnostic work-up

Diagnostic Test: Specific diagnostic work-up for ATTR-CM patients

Technetium-scintigraphy

Outcome Measures

Primary Outcome Measures

Diagnosis yield [1 year]
Diagnosis yield of Tc-scintigraphy as a screening tool for ATTR-CM, as measured by the percentage of patients with a confirmed diagnosis of ATTR-CM in relation to the whole population of patients studied

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria

Adult patients (> 18 years old) with diagnosis of idiopathic peripheral neuropathy

Exclusion criteria

Patients with alternative established diagnosis of heart disease (ischemic heart disease, primary valvular heart disease, cardiomyopathies, pericardial disease)
Patients with end stage renal disease undergoing dialysis
Patients with other medical conditions recognized to impair the 1-year prognosis of patients