Autonomic Nervous System DiseaseNCT05087953
Autonomic Evaluation of Patients With Hereditary Amyloidotic Cardiomyopathy: Hereditary Amyloidotic Heart Disease
An observational study of Autonomic Nervous System Disease and Amyloid Neuropathies, run by University of Sao Paulo General Hospital at 3 sites in Brazil.
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… Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Autonomic Nervous System Disease, Amyloid Neuropathies
- What is being tested?
- Head-Up Tilt table test and Heart Rate Variability
- How many people
- 60 participants
- Where
- 3 sitesBrazil
- Study dates
- Jan 2022to Jul 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- -
Trial locations and contacts
3 sites in 1 country.
Brazil3 sites
Instituto do Coração - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
São Paulo, São Paulo, 05403-900
University of Sao Paulo Medical School - The Heart Institute
São Paulo, 05403-000
Fabio Fernandes
São Paulo, 05403000
About this study
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
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.
Read more
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).
- Being tested
- Head-Up Tilt table test, Heart Rate Variability
- Medical subject headings
- Amyloid Neuropathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Head-Up Tilt table testDiagnostic test
Also called Tilt-test
Autonomic response assessment in the orthostatic head up tilt test.
Heart Rate VariabilityDiagnostic test
Assessment of heart rate variability on 24-hour Holter monitoring..
| Study group | Role | What they receive |
|---|---|---|
| FAC group | Patients with familial amyloidotic cardiomyopathy. Receives: Diagnostic Test: Head-Up Tilt table test; Diagnostic Test: Heart Rate Variability | |
| Non-FAC group | Patients with transthyretin gene mutations who do not have FAC. Receives: Diagnostic Test: Head-Up Tilt table test; Diagnostic Test: Heart Rate Variability | |
| Control group | Healthy subjects. Receives: Diagnostic Test: Head-Up Tilt table test; Diagnostic Test: Heart Rate Variability |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 6 months
Secondary outcomes (2)
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.
Measured: 6 months
Correlation between dysautonomy and structural cardiac alterations.
Evaluate the relationship of dysautonomia changes with cardiac structural changes assessed by strain echocardiography.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Oct 2021
- Study startJan 2022 (estimated)
- Primary completionJan 2023 (estimated)
- Study completionJul 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Autonomic Nervous System DiseaseStudies of the same condition, open and under way.
- More trials run by University of Sao Paulo General HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Sao Paulo General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Fleury
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05087953
- Sponsor's protocol ID
- SDC 5045/20/074
- Status last verified
- Oct 2021
- First submitted
- 8 Oct 2021
- Last updated
- 21 Oct 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 20479782Cruz 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.
PubMed 22494049Queiroz 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.
PubMed 26351985Cruz 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.
PubMed 28434317
Study at a glance
From the registry record, last updated by the sponsor on 21 Oct 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT05087953
- Acronym / sponsor ID
- SDC 5045/20/074
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- University of Sao Paulo General HospitalUniversity, hospital or other
- Collaborators
- Fleury
- Study start
- Jan 2022 (estimated)
- Primary completion
- Jan 2023 (estimated)
- Study completion
- Jul 2023 (estimated)
- First posted
- 21 Oct 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| FAC group | – | Diagnostic Test: Head-Up Tilt table test, Diagnostic Test: Heart Rate VariabilityPatients with familial amyloidotic cardiomyopathy. |
| Non-FAC group | – | Diagnostic Test: Head-Up Tilt table test, Diagnostic Test: Heart Rate VariabilityPatients with transthyretin gene mutations who do not have FAC. |
| Control group | – | Diagnostic Test: Head-Up Tilt table test, Diagnostic Test: Heart Rate VariabilityHealthy subjects. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Head-Up Tilt table testAlso: Tilt-testAutonomic response assessment in the orthostatic head up tilt test. | Diagnostic test | Control group, FAC group, Non-FAC group |
| Heart Rate VariabilityAssessment of heart rate variability on 24-hour Holter monitoring.. | Diagnostic test | Control group, FAC group, Non-FAC group |
Primary outcome
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.
2 secondary outcomes
Correlation between dysautonomia and electrophysiological cardiac disturbances.
Time frame: 6 months
Correlation between dysautonomy and structural cardiac alterations.
Time frame: 6 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Oct 2021.
- Background: PubMed 20479782Rapezzi 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.
- Background: PubMed 22494049Cruz 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.
- Background: PubMed 26351985Queiroz 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.
- Background: PubMed 28434317Cruz 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autonomic Nervous System Disease and Amyloid Neuropathies, run by University of Sao Paulo General Hospital at 3 sites in Brazil.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 21 Oct 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Brazil. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Bruno VK Bueno, MD (+55(11)98187-7226, vazkerges@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Autonomic response profile of patients with FAC. (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05087953, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Oct 2021.