Clinical trial NCT05087953: Autonomic Evaluation of Patients With Hereditary Amyloidotic Cardiomyopathy: Hereditary Amyloidotic Heart Disease
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
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Autonomic Nervous System Disease
Amyloid Neuropathies
Lead sponsor: University of Sao Paulo General Hospital
Sponsor class: OTHER
Collaborators: name: Fleury
First posted: 2021-10-21
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

Brief 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).


Eligibility criteria: 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:

-

Primary outcomes:
measure: Autonomic response profile of patients with FAC.
timeFrame: 6 months
Secondary outcomes:
measure: Correlation between dysautonomia and electrophysiological cardiac disturbances.
timeFrame: 6 months
measure: Correlation between dysautonomy and structural cardiac alterations.
timeFrame: 6 months
Other outcomes:
Locations:
city: São Paulo
country: Brazil
facility: Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
state: Sao Paulo
city: Sao Paulo
country: Brazil
facility: University of Sao Paulo Medical School - The Heart Institute
city: São Paulo
country: Brazil
facility: Fabio Fernandes
Study officials:
References:
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.
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.
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.
citation: 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.