There are about 21062 clinical studies being (or have been) conducted in Italy. The country of the clinical trial is determined by the location of where the clinical research is being studied. Most studies are often held in multiple locations & countries.
Background Epilepsy is a common neurological disorder. It affects 50 million people worldwide and has the highest incidence in pediatric age. According to the latest classification of the ILAE (International League against Epilepsy), epilepsies are divided into lesional (symptomatic) and non-lesional/genetic forms. Symptomatic causes of epilepsy may include scarring, tumors, strokes, and brain developmental disorders such as dysplasias. In approximately 30% of epilepsies a genetic cause of epilepsy can be hypothesized. Since the identification of the first epilepsy gene in 1995, over the next 25 years over 500 genes associated with epilepsy have been identified. The importance of many genes and many gene variants identified in many genes is not yet clear and the mutations identified in different genes require confirmation with functional studies and confirmation on larger series of patients. Furthermore, the genetic defect underlying many patients with epilepsy remains unknown to this day, despite a high level of gene sequencing effort. Molecular studies on these genes have demonstrated how pathogenic variants on these genes determine a protein dysfunction that can cause neuronal hyperexcitability and pathological synchronization of neuronal networks leading to epileptic seizures and brain dysfunction. A notable complication in the field of epilepsy genetics is represented by the fact that the concept of a gene/a disease is valid only in a few cases, as there is a high phenotypic and genotypic heterogeneity so that a gene can present different types of epilepsy even within the same family. This means that there is a complex multigenic and multifactorial genetic substrate for which the impact of a specific genetic variant is conditioned by variants of other genes. This concept is particularly valid for the most common epileptic forms such as idiopathic generalized epilepsies. The integration of genetic analysis with epileptological characterization in clinical practice is increasingly crucial in defining a clear molecular diagnosis in patients whose disease cause would otherwise remain unknown, and potentially allows avoiding other unnecessary diagnostic investigations. It is therefore expected that this will lead to optimizing clinical management and reducing overall costs over time. The genetic finding can constitute a useful biomarker for defining the outcome of the disease and for guiding clinical decisions such as the best choice of therapy. Despite the advantages, before starting the genetic testing process, patients and their family members should be informed about the ethical issues that may arise from genetic testing, the technical limitations, legal aspects and costs of genetic investigation. Aim of the study Characterization of patients with epilepsy recruited at the Hospital Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico in Milan (Italy) and analysis with exome NGS sequencing of patients with the highest probability of genetic diagnosis with exome (use of a probability score) Endpoints of study are the following: 1. Identification of the genetic cause of the forms of genetic epilepsies with the highest probability of molecular diagnosis with exome 2. Clinical-instrumental and epileptological characterization according to the ILAE classification of patients with epilepsy followed at the Fondazione IRCCS Ca' Granda Fondazione Ospedale Maggiore Policlinico 3. Correlation of clinical and instrumental parameters (in particular EEG and neuropsychological) of epilepsy recorded on the database with etiology, outcome and response to therapy
This study is for patients with neuroendocrine tumours (NET) with or without carcinoid syndrome followed by NET Unit of European Institute of Oncology. The objective of the trial is to evaluate biochemical markers of myocardial injury (high-sensitive troponins), haemodyinamic markers (pro-brain natriuretic peptide (BNP), N-terminal (NT)-BNP (NT-proBNP)), and markers of fibrosis (Suppression of Tumorigenicity 2 (ST2) in patients with neuroendocrine tumours (NET) with or without carcinoid syndrome.
This study is aimed to compare whole body MRI (WB-MRI) with Bone Scintigraphy (BS) and Computerized Tomography (CT) scans in patients receiving treatment for metastatic castration-resistant prostate cancer to the bone. This is a monocentric, prospective observational study.
This is a non randomized, single arm study, where each patient will undergo imaging with Computed Tomography (CT) and Whole-body magnetic resonance imaging (WB-MRI) at different timepoint. The primary endpoint is time to progression as documented by CT or WB-MRI.
In this observational prospective studi patients with invasive breast cancer no more than 5 cm and clinically node negative, scheduled for conservative surgery and Sentinel Node Biopsy (SNB), are enrolled in the protocol if they have 1-2 sentinel lymphnodes (SLNs) with macrometastases. SLN status will be checked on definitive sections.
Novel treatment modalities like targeted therapies and Immune checkpoint inhibitors have revolutionised the therapeutic landscape in oncology and hematology, significantly improving outcomes even in clinical contexts in which little improvement had been observed for decades such as metastatic melanoma, lung cancer, and lymphoproliferative neoplasms such as chronic lymphoid leukemia or Hodgkin lymphoma. However, major issues remain unsolved, given the frequent occurrence of primary or secondary resistance and the still incomplete understanding of the physiopathology of adverse events, which represent a major cause of morbidity and treatment interruption and often remain difficult to treat and diagnose. In this complex landscape, identifying the best treatment option for each patient remains challenging. For both targeted therapies and Immune checkpoint inhibitors, several biomarkers have been reported, but their implementation in clinical practice is still uncommon, and most of the decision-making process remains based on purely clinical considerations or constraints dictated by the regulatory bodies. Obstacles to biomarker-driven decision making are manifold and include insufficient understanding of the underlying biology, lack of strong evidence on their predictive power and limited tumor sampling, which may be circumvented by non-invasive techniques such as liquid biopsies.
The purpose of this study is therefore to analyze the genomic profiles of prognosis and radiosensitivity of Human Papilloma Virus (HPV) related tumors from different body sites (oropharynx, uterine cervix, and anus), considering them as a unified entity regardless of the site of origin within the body.
The goal of this observational study is to investigate the frequency and the possible pathogenic role of neuronal synaptic antibodies (NSAb) in patients with cognitive impairment (CI). The main questions it aims to answer are: 1. the frequency and associated features of NSAb in patients with CI and the usefulness of a clinical score in improving autoimmune dementia (AID) diagnosis; 2. the clinical significance of NSAb in patients with CI not fulfilling the autoimmune encephalitis (AE) criteria and serum NSAb (NSAb-pos-CI); 3. the impact of blood-brain-barrier (BBB) dysfunction on their pathogenicity.
The goal of this clinical trial is to assess the effectiveness of FES cycling in terms of changes morpho-functional characteristics of the leg muscles, training performance and bone trophism in 5 subjects with Spinal Cord Injury after 6 months of training. The main question[s] it aims to answer are: - Do the morpho-functional characteristics of the leg muscles improve after 3 and 6 months of training with FES cycling? If any, the morpho-functional improvements are maintained one month after the end of the training? - Does the quality of the leg bones improve after 3 and 6 months of training with FES cycling? - Does the training performance improve during the training with FES cycling? - Do the data referred to the vegetative nervous system change after 3 and 6 months of training with FES cycling? If yes, the changes in the vegetative nervous system are maintained one month after the end of the training? - Does the intestinal function change after 3 and 6 months of training with FES cycling? If yes, the changes are maintained one month after the end of the training? - Does the level of spasticity of the lower limbs change after 3 and 6 months of training with FES cycling? If yes, the changes are maintained one month after the end of the training? - Does the level of pain perceived by pilots change after 3 and 6 months of training with FES cycling? If yes, the changes are maintained one month after the end of the training? - Does the Psychological General Well-Being of the pilots change after 3 and 6 months of training with FES cycling? If yes, the changes are maintained one month after the end of the training? - Does the pilots' motivation in carrying out a sporting activity change between T1 (3 months after starting the training) and T2(6 months after starting the training)? Participants will train for 6 months with FES-cycling twice a week. Each session includes at most 30 minutes of stimulation.
evaluate the clinical outcome of the implantation of a specific primary TKA model implanted with the aid of inertial sensors for the execution of bone cuts through the administration of questionnaires for the calculation of clinical-functional scores;