Transthyretin AmyloidosisNCT06345235
New Biomarkers and Plasma Prothrombotic Potential in Cardiac Transthyretin Amyloidosis
An observational study of Transthyretin Amyloidosis, run by John Paul II Hospital, Krakow at 1 site in Poland.
Trial summary
The development of cardiac amyloidosis is caused by the deposition of misfolded, insoluble proteins in the extracellular matrix of tissues. An important element of the clinical picture of the disease is the increased risk of thromboembolic complications, independent of the occurrence of atrial fibrillation, and the… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Transthyretin Amyloidosis
- What is being tested?
- blood test
- How many people
- 100 participants
- Where
- 1 sitePoland
- Study dates
- 11 Jul 2023to 11 Jul 2024
- 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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 100 consecutive patients
Who may be able to join
- the study will include consecutive patients diagnosed with ATTR cardiomyopathy (GROUP 1, n=30), asymptomatic carriers of pathogenic TTR variants (GROUP 2, n=30), and a matched control group of healthy volunteers (GROUP 3, n=20)
- age over 18
- expressing informed written consent
- clinical criteria (one of the following for a given group):
- ATTR cardiomyopathy (GROUP 1),
- asymptomatic carrier of the pathogenic variant of the TTR gene (GROUP 2),
- no diagnosed ATTR cardiomyopathy and no pathogenic variant of the TTR gene (GROUP 3).
Who cannot join
- age under 18 years of age
- failure to provide informed written consent
- pregnancy and lactation
Trial locations and contacts
1 site in 1 country.
Poland1 site, 1 recruiting
- Recruiting
John Paul II Hospital
Krakow, 31-202
Katarzyna Holcman, MD, 608214249 ext. 48, katarzyna.holcman@gmail.com
Katarzyna Holcman, MD
About this study
Official title: Assessment of the Association of New Biomarkers (GDF15, ST2, Galectin-3, TIMP-1, MMP-9, NfL) and Plasma Prothrombotic Potential in the Course of Cardiac Transthyretin Amyloidosis
The development of cardiac amyloidosis is caused by the deposition of misfolded, insoluble proteins in the extracellular matrix of tissues. An important element of the clinical picture of the disease is the increased risk of thromboembolic complications, independent of the occurrence of atrial fibrillation, and the presence of intracardiac thrombi. The pathomechanism may be related to an increase in filling pressure or amyloid infiltration leading to myocardial damage and endothelial dysfunction, which may activate the prothrombotic inflammatory cascade, resulting in increased thrombogenic potential. Currently, there is limited published data on the potential role of new heart failure biomarkers in the assessment of ATTR cardiomyopathy, particularly in the assessment of asymptomatic carriers of pathogenic TTR variants. Moreover, there are few literature reports on the direct assessment of the coagulation system in this group of patients, and the pathomechanism of the increased thromboembolic risk is unexplored.
Purpose of the study: To assess the diagnostic value of biomarkers related to heart failure (growth differentiation factor-15 (GDF15), soluble suppression of tumorigenicity-2 (ST2), galectin-3), amyloidosis ( TTR, tissue inhibitor of metalloproteinase-1 (TIMP-1), matrix metalloproteinase-9 (MMP-9, matrix metalloproteinase-9), neurofilament light chain (NfL)) and the generation potential thrombin as a marker of the prothrombotic state in the course of ATTR.
Methods: This prospective, single-center study will include consecutive patients diagnosed with ATTR cardiomyopathy (GROUP 1, n=30), asymptomatic carriers of pathogenic TTR variants (GROUP 2, n=30), and a matched control group of healthy volunteers (GROUP 3 , n=20). Material for research was collected and secured from all study participants. After giving informed consent, all patients will be tested using the ELISA method from peripheral blood (enzyme-linked immunosorbent assay) GDF15, ST2, TTR, TIMP-1, MMP-9, galectin-3, NfL. The values of these biomarkers will be compared in subgroups and correlated with clinical data, laboratory test results, echocardiography including analysis of left ventricular global strain (GLS), and scintigraphy. Additionally, the prothrombotic potential of plasma will be tested in both groups of patients using the calibrated automatic thrombogram (CAT) method, in accordance with the protocol previously used in the laboratory Expected results: The project will provide information on the value of biomarkers in the assessment of ATTR cardiomyopathy, especially in the assessment of asymptomatic carriers of pathogenic TTR variants, which may translate into the creation of a diagnostic algorithm for early identification of the development of the disease. Moreover, it will allow us to determine whether patients with cardiac ATTR are characterized by a prothrombotic state, which has not yet been described in the literature and may have potential clinical implications.
Read the detailed description
Introduction: The development of cardiac amyloidosis is caused by the deposition of misfolded, insoluble proteins in the extracellular matrix of tissues. More than 30 precursor proteins can form amyloid fibrils, but two types account for 95% of cases of amyloid cardiomyopathy (CA): immunoglobulin light chain (AL) amyloidosis and transthyretin amyloidosis (ATTR). There are two forms of ATTR - acquired wild-type ATTR (ATTRwt) and the hereditary form (ATTRm), developing on the basis of mutations in the transthyretin (TTR) gene. Among patients with CA, as the disease progresses, heart failure develops, and if left untreated, the disease leads to death within 6 months to 3 years. Due to the unique pathology of the disease, the clinical picture includes the development of: peripheral polyneuropathy, autonomic dysfunction, and an increased risk of thromboembolic complications. An important element of the clinical picture of the disease is the increased risk of thromboembolic complications, independent of the occurrence of atrial fibrillation, and the presence of intracardiac thrombi. The pathomechanism may be related to an increase in filling pressure or amyloid infiltration leading to myocardial damage and endothelial dysfunction, which may activate the prothrombotic inflammatory cascade, resulting in increased thrombogenic potential. Scintigraphy has become a key technique in identifying patients with ATTR - in the absence of a detectable monoclonal protein, it allows for a non-invasive diagnosis of ATTR. Due to the development of disease-specific therapies (stabilizing drugs, gene therapy), it is important to diagnose the disease at an early stage, when the symptoms are relatively mild, and the implementation of treatment allows to stop the development of the disease and reduce mortality. Currently, there is limited published data on the potential role of new heart failure biomarkers in the assessment of ATTR cardiomyopathy, particularly in the assessment of asymptomatic carriers of pathogenic TTR variants. Moreover, there are few literature reports on the direct assessment of the coagulation system in this group of patients, and the pathomechanism of the increased thromboembolic risk is unexplored.
Purpose of the study: To assess the diagnostic value of biomarkers related to heart failure (growth differentiation factor-15 (GDF15), soluble suppression of tumorigenicity-2 (ST2), galectin-3), amyloidosis (TTR, tissue inhibitor of metalloproteinase-1 (TIMP-1), matrix metalloproteinase-9 (MMP-9, matrix metalloproteinase-9), neurofilament light chain (NfL)) and the generation potential thrombin as a marker of the prothrombotic state in the course of ATTR.
Methods: This prospective, single-center study will include consecutive patients diagnosed with ATTR cardiomyopathy (GROUP 1, n=30), asymptomatic carriers of pathogenic TTR variants (GROUP 2, n=30), and a matched control group of healthy volunteers (GROUP 3 , n=20). Material for research was collected and secured from all study participants. After giving informed consent, all patients will be tested using the ELISA method from peripheral blood (enzyme-linked immunosorbent assay) GDF15, ST2, TTR, TIMP-1, MMP-9, galectin-3, NfL. The values of these biomarkers will be compared in subgroups and correlated with clinical data, laboratory test results, echocardiography including analysis of left ventricular global strain (GLS), and scintigraphy. Additionally, the prothrombotic potential of plasma will be tested in both groups of patients using the calibrated automatic thrombogram (CAT) method, in accordance with the protocol previously used in the laboratory. The results will be compared with reference values for the control group. All tests will be performed by qualified and experienced staff.
Expected results: The project will provide information on the value of biomarkers in the assessment of ATTR cardiomyopathy, especially in the assessment of asymptomatic carriers of pathogenic TTR variants, which may translate into the creation of a diagnostic algorithm for early identification of the development of the disease. Moreover, it will allow us to determine whether patients with cardiac ATTR are characterized by a prothrombotic state, which has not yet been described in the literature and may have potential clinical implications. The obtained results can be used as starting data for further research on the coagulation system in ATTR in subsequent scientific projects.
- Conditions
- Transthyretin Amyloidosis
- Being tested
- blood test
- Keywords
- transthyretin amyloidosis, GDF15, ST2, galectin-3, TIMP-1, MMP-9, NfL, plasma prothrombotic potential, amyloidosis, cardiomyopathy
- Medical subject headings
- Amyloidosis, Hereditary, Transthyretin-Related, Amyloidosis, Cardiomyopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood testDiagnostic test
Assessment of the association of new biomarkers (GDF15, ST2, galectin-3, TIMP-1, MMP-9, NfL) and plasma prothrombotic potential in groups 1, 2, 3
| Study group | Role | What they receive |
|---|---|---|
| with ATTR cardiomyopthy | blood sample Receives: Diagnostic Test: blood test | |
| TTR variant carier and no ATTR cardiomyopthy | blood sample Receives: Diagnostic Test: blood test | |
| controls | blood sample Receives: Diagnostic Test: blood test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Biomarkers
To assess the diagnostic value of growth differentiation factor-15 (GDF15) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Measured: baseline evaluation at the day of enrolment
Thrombin as a marker
To assess the generation potential thrombin as a marker of the prothrombotic state in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group
Measured: baseline evaluation at the day of enrolment
Biomarkers
To assess the diagnostic value of soluble suppression of tumorigenicity-2 (ST2) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Measured: baseline evaluation at the day of enrolment
Biomarkers
To assess the diagnostic value of galectin-3 in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Measured: baseline evaluation at the day of enrolment
Biomarkers
To assess the diagnostic value of tissue inhibitor of metalloproteinase-1 (TIMP-1) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Measured: baseline evaluation at the day of enrolment
Biomarkers
To assess the value of TTR in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Measured: baseline evaluation at the day of enrolment
Biomarkers
To assess the diagnostic value of matrix metalloproteinase-9 (MMP-9)in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Measured: baseline evaluation at the day of enrolment
Biomarkers
To assess the diagnostic value of neurofilament light chain (NfL) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Measured: baseline evaluation at the day of enrolment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2024
- Study start11 Jul 2023
- Primary completion11 Jul 2024 (estimated)
- Study completion11 Jul 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Transthyretin AmyloidosisStudies of the same condition, open and under way.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- John Paul II Hospital, Krakow
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06345235
- Sponsor's protocol ID
- ID DEC-2023/07/X/NZ5/00141
- Status last verified
- Apr 2024
- First submitted
- 27 Mar 2024
- Last updated
- 19 Apr 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Gawor M, Holcman K, Franaszczyk M, Lipowska M, Michalek P, Teresinska A, Bilinska ZT, Rubis P, Kostkiewicz M, Szot W, Podolec P, Grzybowski J. Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis. Cardiol J. 2022;29(6):985-993. doi: 10.5603/CJ.a2020.0104. Epub 2020 Aug 13.
PubMed 32789836Holcman K, Dziuk M, Grzybowski J, Teresinska A, Malkowski B, Jedrzejuk D, Brockhuis B, Czepczynski R, Tomkiewicz-Pajak L, Kostkiewicz M. The scintigraphic diagnosis of cardiac amyloidosis. An expert opinion endorsed by the Section of Nuclear Medicine of the Polish Cardiac Society and the Polish Nuclear Medicine Society. Nucl Med Rev Cent East Eur. 2022;25(2):142-147. doi: 10.5603/NMR.a2022.0033.
PubMed 35929128Ticau S, Sridharan GV, Tsour S, Cantley WL, Chan A, Gilbert JA, Erbe D, Aldinc E, Reilly MM, Adams D, Polydefkis M, Fitzgerald K, Vaishnaw A, Nioi P. Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis. Neurology. 2021 Jan 19;96(3):e412-e422. doi: 10.1212/WNL.0000000000011090. Epub 2020 Oct 21.
PubMed 33087494Castiglione V, Franzini M, Aimo A, Carecci A, Lombardi CM, Passino C, Rapezzi C, Emdin M, Vergaro G. Use of biomarkers to diagnose and manage cardiac amyloidosis. Eur J Heart Fail. 2021 Feb;23(2):217-230. doi: 10.1002/ejhf.2113. Epub 2021 Feb 21.
PubMed 33527656Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072.
PubMed 33825853Authors/Task Force Members:; McDonagh TA, Metra M, Adamo M, Gardner RS, Baumbach A, Bohm M, Burri H, Butler J, Celutkiene J, Chioncel O, Cleland JGF, Coats AJS, Crespo-Leiro MG, Farmakis D, Gilard M, Heymans S, Hoes AW, Jaarsma T, Jankowska EA, Lainscak M, Lam CSP, Lyon AR, McMurray JJV, Mebazaa A, Mindham R, Muneretto C, Francesco Piepoli M, Price S, Rosano GMC, Ruschitzka F, Kathrine Skibelund A; ESC Scientific Document Group. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC). With the special contribution of the Heart Failure Association (HFA) of the ESC. Eur J Heart Fail. 2022 Jan;24(1):4-131. doi: 10.1002/ejhf.2333.
PubMed 35083827
Study at a glance
From the registry record, last updated by the sponsor on 19 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of the Association of New Biomarkers (GDF15, ST2, Galectin-3, TIMP-1, MMP-9, NfL) and Plasma Prothrombotic Potential in the Course of Cardiac Transthyretin Amyloidosis
- ClinicalTrials.gov ID
- NCT06345235
- Acronym / sponsor ID
- ID DEC-2023/07/X/NZ5/00141
- Conditions
- Transthyretin Amyloidosis
- Keywords
- transthyretin amyloidosis, GDF15, ST2, galectin-3, TIMP-1, MMP-9, NfL, plasma prothrombotic potential
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- John Paul II Hospital, KrakowUniversity, hospital or other
- Study start
- 11 Jul 2023 (actual)
- Primary completion
- 11 Jul 2024 (estimated)
- Study completion
- 11 Jul 2024 (estimated)
- First posted
- 3 Apr 2024 (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.
The development of cardiac amyloidosis is caused by the deposition of misfolded, insoluble proteins in the extracellular matrix of tissues. An important element of the clinical picture of the disease is the increased risk of thromboembolic complications, independent of the occurrence of atrial fibrillation, and the presence of intracardiac thrombi. The pathomechanism may be related to an increase in filling pressure or amyloid infiltration leading to myocardial damage and endothelial dysfunction, which may activate the prothrombotic inflammatory cascade, resulting in increased thrombogenic potential. Currently, there is limited published data on the potential role of new heart failure biomarkers in the assessment of ATTR cardiomyopathy, particularly in the assessment of asymptomatic carriers of pathogenic TTR variants. Moreover, there are few literature reports on the direct assessment of the coagulation system in this group of patients, and the pathomechanism of the increased thromboembolic risk is unexplored.
Purpose of the study: To assess the diagnostic value of biomarkers related to heart failure (growth differentiation factor-15 (GDF15), soluble suppression of tumorigenicity-2 (ST2), galectin-3), amyloidosis ( TTR, tissue inhibitor of metalloproteinase-1 (TIMP-1), matrix metalloproteinase-9 (MMP-9, matrix metalloproteinase-9), neurofilament light chain (NfL)) and the generation potential thrombin as a marker of the prothrombotic state in the course of ATTR.
Methods: This prospective, single-center study will include consecutive patients diagnosed with ATTR cardiomyopathy (GROUP 1, n=30), asymptomatic carriers of pathogenic TTR variants (GROUP 2, n=30), and a matched control group of healthy volunteers (GROUP 3 , n=20). Material for research was collected and secured from all study participants. After giving informed consent, all patients will be tested using the ELISA method from peripheral blood (enzyme-linked immunosorbent assay) GDF15, ST2, TTR, TIMP-1, MMP-9, galectin-3, NfL. The values of these biomarkers will be compared in subgroups and correlated with clinical data, laboratory test results, echocardiography including analysis of left ventricular global strain (GLS), and scintigraphy. Additionally, the prothrombotic potential of plasma will be tested in both groups of patients using the calibrated automatic thrombogram (CAT) method, in accordance with the protocol previously used in the laboratory Expected results: The project will provide information on the value of biomarkers in the assessment of ATTR cardiomyopathy, especially in the assessment of asymptomatic carriers of pathogenic TTR variants, which may translate into the creation of a diagnostic algorithm for early identification of the development of the disease. Moreover, it will allow us to determine whether patients with cardiac ATTR are characterized by a prothrombotic state, which has not yet been described in the literature and may have potential clinical implications.
Detailed description
Introduction: The development of cardiac amyloidosis is caused by the deposition of misfolded, insoluble proteins in the extracellular matrix of tissues. More than 30 precursor proteins can form amyloid fibrils, but two types account for 95% of cases of amyloid cardiomyopathy (CA): immunoglobulin light chain (AL) amyloidosis and transthyretin amyloidosis (ATTR). There are two forms of ATTR - acquired wild-type ATTR (ATTRwt) and the hereditary form (ATTRm), developing on the basis of mutations in the transthyretin (TTR) gene. Among patients with CA, as the disease progresses, heart failure develops, and if left untreated, the disease leads to death within 6 months to 3 years. Due to the unique pathology of the disease, the clinical picture includes the development of: peripheral polyneuropathy, autonomic dysfunction, and an increased risk of thromboembolic complications. An important element of the clinical picture of the disease is the increased risk of thromboembolic complications, independent of the occurrence of atrial fibrillation, and the presence of intracardiac thrombi. The pathomechanism may be related to an increase in filling pressure or amyloid infiltration leading to myocardial damage and endothelial dysfunction, which may activate the prothrombotic inflammatory cascade, resulting in increased thrombogenic potential. Scintigraphy has become a key technique in identifying patients with ATTR - in the absence of a detectable monoclonal protein, it allows for a non-invasive diagnosis of ATTR. Due to the development of disease-specific therapies (stabilizing drugs, gene therapy), it is important to diagnose the disease at an early stage, when the symptoms are relatively mild, and the implementation of treatment allows to stop the development of the disease and reduce mortality. Currently, there is limited published data on the potential role of new heart failure biomarkers in the assessment of ATTR cardiomyopathy, particularly in the assessment of asymptomatic carriers of pathogenic TTR variants. Moreover, there are few literature reports on the direct assessment of the coagulation system in this group of patients, and the pathomechanism of the increased thromboembolic risk is unexplored.
Purpose of the study: To assess the diagnostic value of biomarkers related to heart failure (growth differentiation factor-15 (GDF15), soluble suppression of tumorigenicity-2 (ST2), galectin-3), amyloidosis (TTR, tissue inhibitor of metalloproteinase-1 (TIMP-1), matrix metalloproteinase-9 (MMP-9, matrix metalloproteinase-9), neurofilament light chain (NfL)) and the generation potential thrombin as a marker of the prothrombotic state in the course of ATTR.
Methods: This prospective, single-center study will include consecutive patients diagnosed with ATTR cardiomyopathy (GROUP 1, n=30), asymptomatic carriers of pathogenic TTR variants (GROUP 2, n=30), and a matched control group of healthy volunteers (GROUP 3 , n=20). Material for research was collected and secured from all study participants. After giving informed consent, all patients will be tested using the ELISA method from peripheral blood (enzyme-linked immunosorbent assay) GDF15, ST2, TTR, TIMP-1, MMP-9, galectin-3, NfL. The values of these biomarkers will be compared in subgroups and correlated with clinical data, laboratory test results, echocardiography including analysis of left ventricular global strain (GLS), and scintigraphy. Additionally, the prothrombotic potential of plasma will be tested in both groups of patients using the calibrated automatic thrombogram (CAT) method, in accordance with the protocol previously used in the laboratory. The results will be compared with reference values for the control group. All tests will be performed by qualified and experienced staff.
Expected results: The project will provide information on the value of biomarkers in the assessment of ATTR cardiomyopathy, especially in the assessment of asymptomatic carriers of pathogenic TTR variants, which may translate into the creation of a diagnostic algorithm for early identification of the development of the disease. Moreover, it will allow us to determine whether patients with cardiac ATTR are characterized by a prothrombotic state, which has not yet been described in the literature and may have potential clinical implications. The obtained results can be used as starting data for further research on the coagulation system in ATTR in subsequent scientific projects.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| with ATTR cardiomyopthy | – | Diagnostic Test: blood testblood sample |
| TTR variant carier and no ATTR cardiomyopthy | – | Diagnostic Test: blood testblood sample |
| controls | – | Diagnostic Test: blood testblood sample |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 100 consecutive patients
Key inclusion criteria (7 listed)
- the study will include consecutive patients diagnosed with ATTR cardiomyopathy (GROUP 1, n=30), asymptomatic carriers of pathogenic TTR variants (GROUP 2, n=30), and a matched control group of healthy volunteers (GROUP 3, n=20)
- age over 18
- expressing informed written consent
- clinical criteria (one of the following for a given group):
Key exclusion criteria (3 listed)
- age under 18 years of age
- failure to provide informed written consent
- pregnancy and lactation
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 |
|---|---|---|
| blood testAssessment of the association of new biomarkers (GDF15, ST2, galectin-3, TIMP-1, MMP-9, NfL) and plasma prothrombotic potential in groups 1, 2, 3 | Diagnostic test | TTR variant carier and no ATTR cardiomyopthy, controls, with ATTR cardiomyopthy |
Primary outcome
Biomarkers
Time frame: baseline evaluation at the day of enrolment
To assess the diagnostic value of growth differentiation factor-15 (GDF15) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Thrombin as a marker
Time frame: baseline evaluation at the day of enrolment
To assess the generation potential thrombin as a marker of the prothrombotic state in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group
Biomarkers
Time frame: baseline evaluation at the day of enrolment
To assess the diagnostic value of soluble suppression of tumorigenicity-2 (ST2) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Biomarkers
Time frame: baseline evaluation at the day of enrolment
To assess the diagnostic value of galectin-3 in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Biomarkers
Time frame: baseline evaluation at the day of enrolment
To assess the diagnostic value of tissue inhibitor of metalloproteinase-1 (TIMP-1) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Biomarkers
Time frame: baseline evaluation at the day of enrolment
To assess the value of TTR in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Biomarkers
Time frame: baseline evaluation at the day of enrolment
To assess the diagnostic value of matrix metalloproteinase-9 (MMP-9)in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Biomarkers
Time frame: baseline evaluation at the day of enrolment
To assess the diagnostic value of neurofilament light chain (NfL) in the course of ATTR compared to asymptomatic pathogenic TTR variant gene carriers and control group.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Apr 2024.
- Background: PubMed 32789836Gawor M, Holcman K, Franaszczyk M, Lipowska M, Michalek P, Teresinska A, Bilinska ZT, Rubis P, Kostkiewicz M, Szot W, Podolec P, Grzybowski J. Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis. Cardiol J. 2022;29(6):985-993. doi: 10.5603/CJ.a2020.0104. Epub 2020 Aug 13.
- Background: PubMed 35929128Holcman K, Dziuk M, Grzybowski J, Teresinska A, Malkowski B, Jedrzejuk D, Brockhuis B, Czepczynski R, Tomkiewicz-Pajak L, Kostkiewicz M. The scintigraphic diagnosis of cardiac amyloidosis. An expert opinion endorsed by the Section of Nuclear Medicine of the Polish Cardiac Society and the Polish Nuclear Medicine Society. Nucl Med Rev Cent East Eur. 2022;25(2):142-147. doi: 10.5603/NMR.a2022.0033.
- Background: PubMed 33087494Ticau S, Sridharan GV, Tsour S, Cantley WL, Chan A, Gilbert JA, Erbe D, Aldinc E, Reilly MM, Adams D, Polydefkis M, Fitzgerald K, Vaishnaw A, Nioi P. Neurofilament Light Chain as a Biomarker of Hereditary Transthyretin-Mediated Amyloidosis. Neurology. 2021 Jan 19;96(3):e412-e422. doi: 10.1212/WNL.0000000000011090. Epub 2020 Oct 21.
- Background: PubMed 33527656Castiglione V, Franzini M, Aimo A, Carecci A, Lombardi CM, Passino C, Rapezzi C, Emdin M, Vergaro G. Use of biomarkers to diagnose and manage cardiac amyloidosis. Eur J Heart Fail. 2021 Feb;23(2):217-230. doi: 10.1002/ejhf.2113. Epub 2021 Feb 21.
- Background: PubMed 33825853Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072.
- Background: PubMed 35083827Authors/Task Force Members:; McDonagh TA, Metra M, Adamo M, Gardner RS, Baumbach A, Bohm M, Burri H, Butler J, Celutkiene J, Chioncel O, Cleland JGF, Coats AJS, Crespo-Leiro MG, Farmakis D, Gilard M, Heymans S, Hoes AW, Jaarsma T, Jankowska EA, Lainscak M, Lam CSP, Lyon AR, McMurray JJV, Mebazaa A, Mindham R, Muneretto C, Francesco Piepoli M, Price S, Rosano GMC, Ruschitzka F, Kathrine Skibelund A; ESC Scientific Document Group. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC). With the special contribution of the Heart Failure Association (HFA) of the ESC. Eur J Heart Fail. 2022 Jan;24(1):4-131. doi: 10.1002/ejhf.2333.
- Individual participant dataSharing planned: No
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Essen Amyloidosis Registry
Amyloidosis; Systemic, Amyloidosis Cardiac
Active, not recruitingPhase 3
A Phase 3 Study of NTLA-2001 in ATTRv-PN
Neuromuscular Disease, Neuromuscular Diseases (NMD)
RecruitingPhase 3
MAGNITUDE: A Phase 3 Study of NTLA-2001 in Participants With Transthyretin Amyloidosis With Cardiomyopathy (ATTR-CM)
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Transthyretin Amyloidosis, run by John Paul II Hospital, Krakow at 1 site in Poland.
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 7 inclusion and 3 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 19 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Poland. 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 Katarzyna Holcman, MD (608214249 ext. 48, katarzyna.holcman@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Biomarkers (time frame: baseline evaluation at the day of enrolment). The study lists 8 primary outcomes in all. 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 NCT06345235, which also lists 6 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 19 Apr 2024.