Clinical trials

RIGHT-NET 2.0 is a multicenter observational study with a retrospective-prospective design that builds on the original RIGHT-NET study. It aims to observe and document the functional status of the right heart-pulmonary circulation unit (RH-PCU) at rest and during exercise stress transthoracic echocardiography (ExTTE) in clinically stable patients referred to cardiology, internal medicine, echocardiography, and exercise testing laboratories. The study will also include healthy volunteers, individuals with cardiovascular risk factors but no overt disease, athletes undergoing sports eligibility evaluation, and healthy individuals living at high altitude. Patients will be classified according to the 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. The study plans to enroll at least 1000 additional subjects beyond the original RIGHT-NET cohort of 1000 participants, for a total anticipated enrollment of approximately 2000 subjects across 22 Italian and 16 international centers. Data will be collected through the REDCap electronic data capture platform in a pseudonymized format.

Thyroid cancer (TC) is the most common endocrine malignancy, with well-differentiated thyroid carcinomas (DTCs)-papillary (PTC) and follicular (FTC)-comprising the majority of cases. While DTCs generally have favorable prognoses, a subset progresses to poorly differentiated or anaplastic thyroid carcinoma (ATC), which is highly aggressive. Tumor classification is based on histopathology, invasiveness, and molecular characteristics, with new entities like thyroid tumors of uncertain malignant potential (TT-UMP) and non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) refining diagnostic criteria. Current standard treatments include surgical resection, radioactive iodine therapy, and thyroid hormone replacement. However, some patients develop radioiodine-refractory disease with an increased risk of recurrence and progression. Molecular alterations in the MAPK and PI3K pathways play critical roles in thyroid tumorigenesis, influencing therapeutic response and prognosis. Identifying novel biomarkers for early detection and risk stratification is crucial. Emerging evidence highlights the role of microRNAs (miRNAs) in thyroid cancer progression, functioning as oncogenes or tumor suppressors. This retrospective case-control study aims to identify novel molecular markers linked to thyroid cancer aggressiveness. Archived formalin-fixed paraffin-embedded (FFPE) tissue and blood samples will be analyzed from patients with varying degrees of PTC and FTC invasiveness. Control samples will be histologically normal thyroid tissue from the same patients. Next Generation Sequencing (NGS), including RNA-seq and miRNA-seq, will be employed to detect differentially expressed RNA molecules. Validation will be performed using Real-Time PCR in an independent cohort. High-throughput genomic sequencing (Illumina TruSight Oncology 500) will assess mutations, copy number variations, and tumor mutation burden to correlate genetic alterations with malignancy. Variants will be prioritized based on frequency differences in tumor vs. non-tumor populations and functional relevance. The study will enroll patients with follicular cell-derived thyroid carcinoma. A power analysis indicates that 80 subjects provide \>80% statistical power for biomarker identification. Descriptive statistics, parametric/non-parametric tests, and machine learning approaches will analyze transcriptomic and genomic data. Receiver operating characteristic (ROC) curves will assess diagnostic biomarker accuracy, while logistic regression will model associations between molecular alterations and disease severity. This study aims to uncover molecular mechanisms driving thyroid cancer progression and identify biomarkers for improved risk stratification, early diagnosis, and potential therapeutic targeting. Findings may enhance personalized treatment approaches in thyroid oncology.

The aim of this research protocol is to evaluate the adherence to the Mediterranean diet in patients suffering from recurrent kidney stones and osteometabolic diseases. Results of the study will allow to assess the dietary habits of patients with the above diseases. Given the universal prevalence of nephrolithiasis and osteometabolic diseases, the knowledge of these data appears crucial for the proper management of the dietary approach to prophylaxis secondar

The project aims to shed light on the role of Sirtuins, enzymes belonging to the third class of histone deacetylases (class III) involved in epigenetic modifications (deacetylation), focusing mainly on Sirtuin 6 (SIRT6), as a regulator of atherosclerosis and severe aortic valve stenosis through molecular-based and epigenetic studies in human VSMC cells.