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.
Inborn Errors of Immunity (IEI) include clinically heterogeneous rare genetic diseases depending on mutations in about 300 different genes. Clinically, this group of diseases is characterized by the presence of infectious, inflammatory, autoimmune, and lymphoproliferative symptoms. Understanding the pathogenesis of these diseases can guide the implementation of targeted therapies and improve prognosis. In recent years, IEI have been described that do not necessarily present with repeated infectious symptoms but rather with autoimmune, lymphoproliferative, and autoinflammatory manifestations, or with forms of immunodeficiency with a spectrum of susceptibility to one or few infectious agents. In this case, simple laboratory tests are not sufficient to characterize the disease since no particular immunophenotypic changes are evident. To correct classify the patients and to improve knowledge on the pathogenesis of the diseases, complex immunologic-functional studies are required. These studies should be started prior to genetic analysis, with the aim of targeting and narrowing it down. Although the ever-decreasing costs of Next Generation Sequencing (NGS) methods make it convenient to analyse many genes or even the entire exome simultaneously, the analysis of the data resulting from NGS can be complex and provide results of uncertain interpretation. In these cases, immunologic-functional studies can clarify the real causal role of the identified genetic variants. The identification of genotype-phenotype correlation is crucial to establish new therapeutic targets for diseases orphan of specific etiological treatments. In vitro and in vivo disease models are key tools to test drugs repositioning, as was the case for Lapaquistat in the treatment of periodic fevers caused by de-regulation of the cholesterol metabolic pathway.
Children and adolescents with special health care needs represent a small but relevant subset of the pediatric population due to high costs for the health care system, risk of lower quality of care, unmet health care needs, and negative health outcomes. Coordination of care and continuity of care are essential issues of appropriate care for these patients, as showed also by the "Special Needs Kids" project, carried out in Emilia Romagna. This project showed the potential for family pediatricians (FP) in Italy to serve as care coordinators and facilitate the implementation of integrated care pathways for children with special health care needs. In Friuli-Venezia Giulia (FVG), a system of "continuity of care" for patients with special needs was developed and implemented. This system integrate hospital and community care in a network involving also FPs, General Practitioner and different actors of social and health services. The aim of this study is to prospectively evaluate the continuity of care provided to children and adolescents with special health needs residing in the FVG region.
One of the problems faced by health services that deals with the diagnosis and treatment of Specific Learning Disorders (SLD), like Dyslexia, Dysgraphia, Dysorthography and Dyscalculia, is the long waiting lists for first visits to possible confirm the diagnosis. One of the reasons explaining the long waiting times is that the school refers a large number of children to the hospital services who do not actually have SLD but a simple school difficulty. These two are very different conditions: - SLD is a neurobiological and genetic-based disorder that, with various degrees of severity, lasts a lifetime. Epidemiological data of the FVG region report a prevalence of dyslexia of 3.1%. Therefore, a prevalence of SLD between 4 and 5% can be assumed. This is a condition whose expressiveness cannot be modified by an enhancement intervention; - The school difficulties are not innate and are characterized by an initial slowdown in bed-writing learning. The prevalence of low-performance school difficulties is between 10 and 15%. This type of problem improves significantly following specific enhancement. Resistance to enhancement intervention is precisely one of the criteria that is still used to distinguish a school difficulty from a SLD: students with SLD would be those who show resistance to specific educational interventions. This criterion is based on the assumption that SLD has a precise neurofunctional basis in contrast to school difficulties. These are a transitional condition, which can be modified by didactic adaptations and enhancement activities (Law 170/2010; regional resolution 933/2014 FVG). The application of enhancement tools in the school environment would therefore make it possible to distinguish, on the basis of the response, subjects with simple school difficulties from those with suspected SLD and, therefore, to report just those one, to the health services for diagnostic confirmation, contributing to the reduction of the workload of the hospital services and the reduction of waiting lists. These results are very important for children with SLD who could be identified and treated in an early and timely manner. The aim of this project is to apply an online screening and further school enhancement process using the "InTempo software" to distinguish children with SLD from those with school difficulties, thus also obtaining data on the real incidence of SLD and school difficulties in The Friuli Venezia Giulia Region.
Witnessed violence is a form of child abuse with detrimental effects on child wellbeing and development, whose recognition relies on the assessment of their mother exposure to intimate partner violence (IPV). The aim of this cross-sectional study is to assess the frequency of witnessed violence in a population of children attending a pediatric emergency department (ED) in Italy, by searching for IPV in their mother, and to define the characteristics of the mother-child dyads.
The current project entails the validation of the Italian version of the Uniform Data Set (I-UDS) neuropsychological in patients with neurodegenerative diseases, specifically in patients with Mild Cognitive Impairment (MCI) and Alzheimer's Disease (AD). Specifically, the final aim is to explore the ability of the battery to differentiate the cognitive profiles of the two groups of patients.
Identify potential markers of recovery through event-related potentials (ERPs) in the evolution of altered consciousness with potential ability to discriminate between different conditions of altered state of consciousness. Identify potential markers with prognostic value, in order to identify personalized and specific intensive rehabilitation paths based on the outcome indexes obtained.
The Exablate 4000 obtained CE Mark for the treatment of Neuropathic Pain in December 2012. The purpose of this post market study is to obtain real world data on the safety and performance of the Exablate treatment for neuropathic pain. The objective of this study is to capture the change in pain intensity, physical/emotional function, and pain impact for patients diagnosed with neuropathic pain who undergo an Exablate treatment.
Comparison of two rehabilitation protocols in patients with Parkinson's disease and, therefore, identification of innovative rehabilitation protocols of proven and validated efficacy, through which it is possible to achieve: - Improved joint function and gait pattern - Reduction of the risk of falling or reduction of energy expenditure during physiological gait Evaluation of the increase in maximal effort tolerance · Improved cognitive performances Evaluation of the impact on the quality of life of the patient and family members Identification of morpho-functional markers predictive of clinical and rehabilitative out-come through neuroimaging study.
Subjects will receive treatment with nivolumab monotherapy at 240mg flat dose as a 30 minute IV infusion on Day 1 of a treatment cycle every 2 weeks (14 days) until confirmed progression of disease, unacceptable toxicity, death or withdrawal of consent. This study is designed to better evaluate the safety profile of nivolumab in a large series of patients with Recurrent or Metastatic (R/M) Squamous Cell Carcinoma of the Head and Neck. The primary endpoint of this study is the incidence of high-grade (CTCAE v 4.03 Grade 3 or higher), treatment-related, select adverse events.
The purpose of the study is to validate the use of smart and widespread instruments to detect kinematic, kinetic and spatio-temporal parameters in gait and postural analysis in hemiparetic and healthy individuals. Device as single Microsoft sensor Kinect v2, wearable sensorized clothing and/or smartphone-type devices will be used; it is also planned to analyze and compare such parameters with those obtained through a technique of manual palpatory analysis. Finally the obtained measures will be compared with the corresponding ones obtained with Three-dimensional instrumented gait analysis (3D-GA).