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

Autonomic Nervous System Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05087953
• Other study ID #: SDC 5045/20/074
• Status: Not yet recruiting
• Start date: January 2022
• Est. completion date: July 2023

Study information

• Verified date: October 2021
• Source: University of Sao Paulo General Hospital
• Contact: Bruno VK Bueno, MD
• Phone: +55(11)98187-7226
• Email: vazkerges[@]gmail.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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).

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 60
• Est. completion date: July 2023
• Est. primary completion date: January 2023
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

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:

-

Related Conditions & MeSH terms

• Amyloid Neuropathies
• Autonomic Nervous System Disease
• Autonomic Nervous System Diseases
• Cardiomyopathies
• Nervous System Diseases
• Primary Dysautonomias

Intervention

Diagnostic Test:
• Head-Up Tilt table test
Autonomic response assessment in the orthostatic head up tilt test.
• Heart Rate Variability
Assessment of heart rate variability on 24-hour Holter monitoring..

Locations

Country	Name	City	State
Brazil	University of Sao Paulo Medical School - The Heart Institute	Sao Paulo
Brazil	Fabio Fernandes	São Paulo
Brazil	Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo	São Paulo	Sao Paulo

Sponsors (2)

Lead Sponsor	Collaborator
University of Sao Paulo General Hospital	Fleury

Country where clinical trial is conducted

Brazil, 

References & Publications (4)

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. — View Citation

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. — View Citation

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. English, Portuguese. — View Citation

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. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Autonomic response profile of patients with FAC.	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	Correlation between dysautonomia and electrophysiological cardiac disturbances.	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
Secondary	Correlation between dysautonomy and structural cardiac alterations.	Evaluate the relationship of dysautonomia changes with cardiac structural changes assessed by strain echocardiography.	6 months