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

NCT ID: NCT05087953

Last Updated: 2021-10-21

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-01-31

Study Completion Date

2023-07-31

Brief Summary

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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).

Detailed Description

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Conditions

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Autonomic Nervous System Disease Amyloid Neuropathies

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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FAC group

Patients with familial amyloidotic cardiomyopathy.

Head-Up Tilt table test

Intervention Type DIAGNOSTIC_TEST

Autonomic response assessment in the orthostatic head up tilt test.

Heart Rate Variability

Intervention Type DIAGNOSTIC_TEST

Assessment of heart rate variability on 24-hour Holter monitoring..

Non-FAC group

Patients with transthyretin gene mutations who do not have FAC.

Head-Up Tilt table test

Intervention Type DIAGNOSTIC_TEST

Autonomic response assessment in the orthostatic head up tilt test.

Heart Rate Variability

Intervention Type DIAGNOSTIC_TEST

Assessment of heart rate variability on 24-hour Holter monitoring..

Control group

Healthy subjects.

Head-Up Tilt table test

Intervention Type DIAGNOSTIC_TEST

Autonomic response assessment in the orthostatic head up tilt test.

Heart Rate Variability

Intervention Type DIAGNOSTIC_TEST

Assessment of heart rate variability on 24-hour Holter monitoring..

Interventions

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Head-Up Tilt table test

Autonomic response assessment in the orthostatic head up tilt test.

Intervention Type DIAGNOSTIC_TEST

Heart Rate Variability

Assessment of heart rate variability on 24-hour Holter monitoring..

Intervention Type DIAGNOSTIC_TEST

Other Intervention Names

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Tilt-test

Eligibility Criteria

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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

\-
Minimum Eligible Age

18 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fleury

UNKNOWN

Sponsor Role collaborator

University of Sao Paulo General Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

São Paulo, São Paulo, Brazil

Site Status

University of Sao Paulo Medical School - The Heart Institute

São Paulo, , Brazil

Site Status

Fabio Fernandes

São Paulo, , Brazil

Site Status

Countries

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Brazil

Central Contacts

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Bruno VK Bueno, MD

Role: CONTACT

+55(11)98187-7226

References

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Rapezzi C, Quarta CC, Riva L, Longhi S, Gallelli I, Lorenzini M, Ciliberti P, Biagini E, Salvi F, Branzi A. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010 Jul;7(7):398-408. doi: 10.1038/nrcardio.2010.67. Epub 2010 May 18.

Reference Type BACKGROUND
PMID: 20479782 (View on PubMed)

Cruz MW. Regional differences and similarities of familial amyloidotic polyneuropathy (FAP) presentation in Brazil. Amyloid. 2012 Jun;19 Suppl 1:65-7. doi: 10.3109/13506129.2012.673183. Epub 2012 Apr 12.

Reference Type BACKGROUND
PMID: 22494049 (View on PubMed)

Queiroz MC, Pedrosa RC, Berensztejn AC, Pereira Bde B, Nascimento EM, Duarte MM, Pereira-Junior PP, Cruz MW. Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients. Arq Bras Cardiol. 2015 Nov;105(5):503-9. doi: 10.5935/abc.20150112. Epub 2015 Sep 8.

Reference Type BACKGROUND
PMID: 26351985 (View on PubMed)

Cruz MW, Foguel D, Berensztejn AC, Pedrosa RC, Mundayat R, Ong ML; THAOS Investigators. The demographic, genetic, and clinical characteristics of Brazilian subjects enrolled in the Transthyretin Amyloidosis Outcomes Survey. Amyloid. 2017 Mar;24(sup1):103-104. doi: 10.1080/13506129.2017.1291423. No abstract available.

Reference Type BACKGROUND
PMID: 28434317 (View on PubMed)

Other Identifiers

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SDC 5045/20/074

Identifier Type: -

Identifier Source: org_study_id