View clinical trials related to Cardiomyopathies.
Filter by:In Portugal, the prevalence of Fabry disease is largely unknown as recently has been stressed by the Portuguese hypertrophic cardiomyopathy registry investigators. On the other hand, few data on Fabry screening protocols in patients with compromised ejection fraction including burned-out hypertrophic cardiomyopathy series have been published. This project intends to perform screening of Fabry disease in patients with distinct cardiomyopathy phenotypes of unknown or dubious etiology and explore the less knew impact of the disease in other cardiac phenotypes.
Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular dystrophy to less severe forms of limb-girdle muscular dystrophy. The great clinical variability of striated muscle laminopathies, both inter- and intra-familial, can be observed in the age of onset, severity of signs and progression of muscle and heart involvement. To date, more than 400 LMNA mutations have been associated with striated muscle laminopathies (www.umd.be/LMNA/), highlighting strong clinical and genetic heterogeneity. A few recurrent mutations linked to a difference in severity have been identified. However, these genotype-phenotype relationships and the rare cases of digenism reported do not explain all the clinical variability of laminopathies. Therefore, there are probably other factors of severity than the causative mutation, called "modifier genes". Identification of such modifier genes has been initiated by studying a large family with significant clinical variability in the age of onset of muscle signs. A segregation analysis within this family identified 2 potential modifier loci. High-throughput sequencing restricted to these 2 regions according to phenotypic subgroups did not led to meaningful results so far. In addition, an international retrospective study of the natural history of early muscle laminopathies has allowed the investigators to highlight a strong inter-family clinical variability in patients carrying recurrent mutations. The investigators thus have strong preliminary data that could allow them to identify modifying genetic factors in a cohort of patients carrying a mutation in the LMNA gene. In order to identify these factors that modulate the clinical severity of laminopathies, the investigators wish to collect biological material (muscle and/or skin biopsies) from patients carrying a mutation in the LMNA gene. The study of this biological material using multi OMICs technics will allow the investigators to identify and functionally validate the action of these modifying genes. OMIICs is a set of techniques for characterising biological molecules using high-throughput approaches such as DNA sequencing, RNA sequencing and/or chromatin conformation (ATACseq...), proteins.
18F-Flutemetamol (Vizamyl) is a radioactive diagnostic agent indicated and FDA-approved for Positron Emission Tomography (PET) imaging of the brain to estimate β-amyloid neuritic plaque density in adult patients with cognitive impairment who are being evaluated for Alzheimer's disease (AD) or other causes of cognitive decline. This study is designed to evaluate a novel use for 18F-Flutemetamol in cardiac amyloidosis.
The purpose of this research is to find out if an aggressive intervention to lose weight, will improve symptoms in patients with obesity-related cardiomyopathy, which is also known as the obese phenotype of heart failure with preserved ejection fraction (HFpEF).
The primary purpose of this study is to evaluate the feasibility, the safety and the efficacy of the transapical beating-heart septal myectomy for the treatment of hypertrophic obstructive cardiomyopathy. This is a prospective, single-arm, single-center, first-in-man study.
The STICH-SWEDEHEART trial will compare PCI vs CABG for revascularization of patients with HF and LV systolic dysfunction (LV ejection fraction (LVEF) <40%) and multi-vessel coronary artery disease.
Prospective, multicenter, randomized, placebo-controlled, double-blind clinical trial to evaluate safety and efficacy of candesartan in the prevention of the development of Dilated Cardiomyopathy (DCM) in genetic carriers of a DCM-causing variant without disease expression (asymptomatic)
The purpose of this study is to test the safety and preliminary efficacy of AAVrh.10hFXN to treat the cardiomyopathy associated with Friedreich's ataxia (FA). AAVrh.10hFXN is a serotype rh.10 adeno-associated virus gene transfer vector coding for Frataxin (FXN). The drug is administered intravenously. This is a phase 1, open label, dose escalation study with a total of 10 participants.
The overall aim of the study is to explore the energy metabolism of the failing heart. Primary objective is to understand the differences in the energy metabolism in patients with DCM and heart failure compared to matched controls without heart failure. Secondary objectives, is to understand if optimal medical therapy, including sodium-gucose transporter 2 inhibitors (SGLT2i), alter the cardiac metabolism in DCM-patients. The investigators will also examine if changes in cardiac metabolism happens during exercise in patients with DCM. This will be done with invasive measurements of a range of energy substrate metabolites in the coronary sinus of the heart in patients with heart failure due to DCM and controls without heart failure respectively. A range of other clinical characteristics will also be examined to characterize patients and controls.
Background The novel coronavirus disease 2019 (COVID-19) caused by an infection with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly become a global pandemic with more than 190.000.000 infections and 4.250.000 reported deaths worldwide. SARS-CoV-2 vaccination plays an important role in containing the pandemic and the possible adverse complications of COVID-19. Large clinical trials have proven the safety and efficacy of the vaccines currently in use. Systemic reactions usually were mild, self-limiting and could be observed more often in younger vaccine recipients. Cases of myocarditis after vaccination have been reported for various vaccines. The new vaccines for SARS-CoV-2 also seem to be affected by this adverse reactions. The pathophysiology is uncertain so far. Aim Aim of this study is a systematic registration of myocarditis cases associated with SARS-CoV-2 vaccination which were diagnosed and/or treated in participating centers. The main goal of this study is the characterization of clinical manifestations and prognosis of the disease. Study Design Patient history, laboratory tests and cardiovascular imaging data of patients with suspected SARS-CoV-2 - vaccine associated myocarditis are documented. Patients with clinical suspicion of troponin-positive myocarditis within 30 days after receiving SARS-CoV-2 vaccine without evidence for apparent other causes e.g. infectious or autoimmune etiology were included. Clinical follow-up data is acquired.