Autonomic Evaluation of Patients With Hereditary Amyloidotic Cardiomyopathy: Hereditary Amyloidotic Heart Disease

October 20, 2021 updated by: University of Sao Paulo General Hospital

Comparative Analysis of the Autonomic Profile Between Patients With Hereditary Amyloidotic Cardiomyopathy Caused by Transthyretin and Patients With Transthyretin Gene Mutation, Without Cardiomyopathy

Transthyretin amyloidosis exhibits a variety of possible phenotypes, the hereditary neurological form being the most commonly found and studied (familial amyloidotic polyneuropathy or FAP), which can present from oligosymptomatic patients to patients with peripheral sensorimotor polyneuropathy of varying degrees and dysautonomia.

Although a specific mutation usually causes a specific phenotype, that is, with a predominantly cardiac or preferential neurological profile, with the increase in the number of diagnosed cases, an overlapping of clinical presentations has been observed.

The assessment of the autonomic profile in individuals with familial amyloidotic cardiomyopathy (FAC) has not been well studied, and it is not known whether patients with an exclusively cardiac profile of the disease may present dysautonomia or whether even mutation carriers without cardiac involvement may exhibit it.

In this study, the autonomic profiles of patients with familial amyloidotic heart disease will be compared with the profiles of patients who have mutations but without established heart disease and healthy individuals (control group).

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Brazil
      • Sao Paulo, Brazil, 05403-000
        • University of Sao Paulo Medical School - The Heart Institute
      • São Paulo, Brazil, 05403000
        • Fabio Fernandes
    • Sao Paulo
      • São Paulo, Sao Paulo, Brazil, 05403-900
        • Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 80 years (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

  • Ischemic or hemorrhagic stroke within the last 6 months;
  • History of ischemic heart disease;
  • Pregnancy;
  • Severe lung disease;
  • Resistant systemic arterial hypertension;
  • Diabetics;
  • Presence of pacemaker or CDI.

Description

Inclusion Criteria:

  • FAC group: patients with familial familial amyloidotic cardiomyopathy (FAC).
  • Non-FAC group: patients with transthyretin gene mutations who do not have FAC.
  • Control group: healthy, asymptomatic individuals without comorbidities and without transthyretin gene mutations.
  • Agreement and signing the informed consent form.

Exclusion Criteria:

-

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
FAC group
Patients with familial amyloidotic cardiomyopathy.
Diagnostic test: Head-Up Tilt table test
Autonomic response assessment in the orthostatic head up tilt test.
Other Names:
  • Tilt-test
Diagnostic test: Heart Rate Variability
Assessment of heart rate variability on 24-hour Holter monitoring..
Non-FAC group
Patients with transthyretin gene mutations who do not have FAC.
Diagnostic test: Head-Up Tilt table test
Autonomic response assessment in the orthostatic head up tilt test.
Other Names:
  • Tilt-test
Diagnostic test: Heart Rate Variability
Assessment of heart rate variability on 24-hour Holter monitoring..
Control group
Healthy subjects.
Diagnostic test: Head-Up Tilt table test
Autonomic response assessment in the orthostatic head up tilt test.
Other Names:
  • Tilt-test
Diagnostic test: Heart Rate Variability
Assessment of heart rate variability on 24-hour Holter monitoring..

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Autonomic response profile of patients with FAC.
Time Frame: 6 months
To compare the autonomic profile by analyzing the heart rate variability on 24 hours Holter monitoring, the patterns of chronotropic and pressure response and the valsalva maneuver in the tilt table test of patients with FAC, with individuals with mutations of the transthyretin gene without FAC and in healthy individuals.
6 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Correlation between dysautonomia and electrophysiological cardiac disturbances.
Time Frame: 6 months
Evaluate the relationship of dysautonomia with atrioventricular, intraventricular, interventricular conduction disturbances, presence of late potentials in the high-resolution electrocardiogram and occurrence of supraventricular and ventricular arrhythmias on Holter monitoring.
6 months
Correlation between dysautonomy and structural cardiac alterations.
Time Frame: 6 months
Evaluate the relationship of dysautonomia changes with cardiac structural changes assessed by strain echocardiography.
6 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Sao Paulo General Hospital

Collaborators

Fleury

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ANTICIPATED)

January 1, 2022

Primary Completion (ANTICIPATED)

January 1, 2023

Study Completion (ANTICIPATED)

July 1, 2023

Study Registration Dates

First Submitted

October 8, 2021

First Submitted That Met QC Criteria

October 20, 2021

First Posted (ACTUAL)

October 21, 2021

Study Record Updates

Last Update Posted (ACTUAL)

October 21, 2021

Last Update Submitted That Met QC Criteria

October 20, 2021

Last Verified

October 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SDC 5045/20/074

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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