View clinical trials related to Amyloidosis.
Filter by:This is a prospective, single-center study exploratory clinical trial, aim to exploring the efficacy and safety of daratumumab in patients with AL amyloidosis, patients were divided into three groups: one group received long-term treatment with daratumumab based regimen, and the other group received autologous stem cell transplantation after two standard treatment courses with daratumumab based regimen, and the third group consists of newly diagnosed stage IIIb AL amyloidosis patients who plan to receive DPD treatment. The purpose of this study is to observe the efficacy and safety of Daratumumab, in the treatment of newly diagnosed systemic AL amyloidosis.
The goal of this prospective clinical study is improve the diagnosis of Low-flow low-gradient aortic stenosis (LF/LG AS), in patients with co-existing wild-type transthyretin cardiac amyloidosis (ATTRwt). The main question it aims to answer is whether the classic dobutamine-stress echocardiography can be used to determine AS severity in patients with ATTRwt and LF/LG AS This question will be tried to answer by comparing dobutamine stress echocardiography, with the invasively measured aortic valve area (which is considered as the gold standard). In addition we aim to assess the degree of myocardial fibrosis and amyloid infiltration, assessed by light microscopy and cardiac magnetic resonance (CMRI) and evaluation of myocyte mitochondrial function by high resolution respirometry and their relation to AS severity and hemodynamic response to dobutamine.
The goal of this observational study is to learn about the frequency of ATTR amyloid, cardiac involvement and associated features, in 150 patients aged 50 or more years, and operated for an idiopathic carpal tunnel syndrome, lumbar spine stenosis or total hip or knee arthroplasty for primary osteoarthritis. The main questions to be answered are: 1. What is the frequency of ATTR deposits in samples retrieved during surgery? 2. What is the frequency of cardiac involvement in ATTR positive patients? 3. What are the preoperative predictors of ATTR deposits? Participants will - have operative samples stained by Congo red in search of amyloid, which will be typed by immunochemistry in positive samples, - undergo a multimodal imaging search for cardiac involvement, if ATTR is identified, - undergo a preoperative complete clinical examination, including collection of medical history, ECG, biochemical tests, and imaging (ultrasound scans of rotator cuff and hip capsule in all participating patients, of the carpal tunnel in patients operated at this site, and MRI + standing profile radiography of the lumbar spine, in patients operated for lumbar stenosis) - ATTR positive patients will be proposed to be followed-up by a reference center, with the aim of an early diagnosis of cardiac involvement, allowing efficient mamagement. Researchers will assess the frequency of ATTR deposits at each operated site, the frequency or ATTR cardiopathy in ATTR + patients, and will compare demographic, clinical, biochemical, and imaging features in patients with and without ATTR deposits, to guide the indications of pathological examination during these frequent orthopedic surgeries
A multicenter observational retrosPective Registry of patIents with transthyretin aMyloid polynEuropathy (hATTR-PN) and chRonic idiopathic axonal polyneuropathy (CIAP) in the population of the Russian Federation (PRIMER) There are no comprehensive epidemiological data on patients with hereditary ATTR-PN (hATTR-PN) and CIAP in the Russian Federation. Therefore, there is a need to conduct a large-scale observational study in the Russian population to obtain information on clinical, electrophysiological and demographic characteristics of patients with hATTR-PN and CIAP. Obtaining the study data will help to identify the patients with axonal polyneuropathy, who deserve TTR gene sequencing, and therefore to allow early treatment and potentially modify disease progression in patients.
In this multicenter study, we will recruit 400 patients 40 years of age or older at 15 centers with a diagnosis of smoldering multiple myeloma (SMM), a group of patients for whom standard of care is observation not treatment. The main goal of this study is to screen for the diagnosis of light-chain amyloidosis (AL) before the onset of symptomatic disease and to develop a training set for a likelihood algorithm.
This is a single-center observational study evaluating the potential value of NfL as a biomarker for diagnosis, detection of disease onset, monitoring of disease progression, and treatment response in asymptomatic carriers of TTR variants and symptomatic hATTR amyloidosis patients with polyneuropathy.
The overall aim of this observational study is to generate real-world evidence on the pre- and post-diagnosis disease journeys, including baseline characteristics, treatment patterns and selected clinical, economic, and humanistic outcomes (for example Health Related Quality of Life (HRQoL), Neuropathy impairment score, activities of daily living (ADL) assessments) in patients with ATTR amyloidosis, and to better understand how the disease is presented.
Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways. However, genetic analyses are sometimes confronted with results that are difficult to interpret. These are the Variants of Unknown Significance, for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms. genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants 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.
This is an open-label, multicenter, Phase 2 study in subjects with newly diagnosed systemic light chain (AL) amyloidosis. Approximately 40 subjects will receive therapy with bortezomib, pomalidomide, and dexamethasone. The primary outcome is hematologic very good partial response and complete response rate at 6 months.