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.
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness. Characterizing the genetic bases of IRDs will help to understand the pathogenesis underlying the development of retinal damage. Despite the advances in molecular identification of genes causing disease, unsolved IRDs constitute about 40% of all cases. Goal of this study is to solve missing heritability in IRD using whole genome sequencing (WGS) to identify the genetic causes in clinically well-characterized patients without a molecular diagnosis. The identification of novel genes that have a role in the development or maintenance of retinal function will lead to the development of new therapeutic approaches and will favour a more prompt diagnosis and improvement of patient management.
The occurrence of brain metastases (BMs) is increasing given the availability of a more accurate radiological imaging such as MRI for detecting also small brain lesions and the most effective systemic therapy able to control extracranial disease. Although, the new target therapy and immunotherapy has proven to be effective on brain metastasis too, a subgroup of patients shows prove themselves unresponsive to medical treatment. A further subgroup of patients exhibit diffuse brain disease for the presence of multiple brain lesion (>10 BMs) or leptomeningeal carcinomatosis. Among these patients the most treatment employed is represented by whole brain RT. Since the 1950s, whole-brain radiation therapy (WBRT) has been the most widely used treatment for patients with multiple brain metastases, given its effectiveness in palliation, widespread availability, and ease to delivery. However, the median overall survival recorded is restricted to 3 months, on the average. A better understanding of the molecular and cellular mechanisms underlying brain metastasis might be expected to lead to improvements in the overall survival rate for these patients. Recent studies have revealed complex interactions between metastatic cancer cells and their microenvironment in the brain. Priego et al. describe that brain metastatic cells induce and maintain the co-option of a pro-metastatic program driven by signal transducer and activator of transcription 3 (STAT3) in a subpopulation of reactive astrocytes surrounding metastatic lesions. In patients, active STAT3 in reactive astrocytes correlates with reduced survival from diagnosis of intracranial metastases. Blocking STAT3 signaling in reactive astrocytes reduces experimental brain metastasis from different primary tumor sources, even at advanced stages of colonization. Silibinin (or silybin) is a natural polyphenolic flavonoid isolated from seed extracts of the herb milk thistle (Silybum marianum). Silibinin has been shown to impair STAT3 activation. Preclinical studies show that Silibinin has an anticancer effects in vitro and in vivo. Based on this background, the investigators designed a double arm randomized trial evaluating the benefit of Silibinin (in the form of marketed supplement) associated to WBRT respect to WBRT alone.
Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, with current survival rates exceeding 90%. As cure rates improve, increasing attention is focused on survivor quality of life, including fertility. It is generally accepted that cancer treatments in childhood may interfere with gonadal function, reducing the pool of primordial follicles and consequently causing premature menopause in women. Anti-Mullerian hormone (AMH) levels is a valuable quantitative indicator of ovarian reserve, being directly related to the number of antral follicles. The evaluation of this hormone makes it possible to identify women at risk of early menopause and to propose them interventions for monitoring and preservation of oocytes, allowing girls to be able to have children once they reach adulthood. The objective of this study is to determine ovarian reserve in girls with ALL before and after treatment by means of the evaluation of the AMH assay.
A lot of different early and late complications may occur after liver transplantation. They could be related to surgical procedure, to infectious diseases or immuno-mediated diseases (acute cellular rejection, ACR). Almost all of those complications are characterized by an elevation in liver enzymes (ALT, AST and GGT) and a decline of liver function tests (serum bilirubin and INR increase) possibly leading to early allograft disfunction (EAD). In this scenario there is a lack of biomarker that could predict the development of ACR and/or EAD. The aim of this study is to explore the prognostic role of non-invasive instrumental and biological marker in the early post-transplant phase.
The investigators plan to collect clinical and molecular data, including ICH, PCR, NGS and methylome, from patients operated on for grade 2 or grade 3 meningioma. The purpose of the study is to identify reliable and easy-to-assess predictive factors for recurrence and survival after surgery.
The aim of this interventional study is to investigate the correlation between Magnetic Resonance Phenotype and levels of FKBP51s protein pre and post surgery in adult patients affected by Glioblastoma
Takotsubo syndrome (TTS) is an acute and reversible form of myocardial injury often preceded by a physical or emotional trigger. Although TTS was generally considered a benign disease for its reversible nature, it is now clear that hemodynamic and electrical instability during the acute phase exposes patients to frequent serious adverse in-hospital complications. However, the pathophysiology of TTS is far from being completely understood. Consistent evidence demonstrated that the environmental events experienced by most of these patients and perceived as stressful (both physical or emotional) induce a brain activation and a stress-related response, with increasing bioavailability of local and circulating stress mediators, such as catecholamine and cortisol, which showed to play a major role in the etiology of to the "neurogenic stunning myocardium" responsible for this clinical condition. Primary and secondary TTS showed an important clinical heterogeneity identifying two different subtypes of patients with different outcomes and risk profiles. the invastigators hypothesize that a different activation of the brain structures involved in acute stress response, as well as a different exposure to chronic stress, may subtend the different clinical and risk profiles observed in primary vs. secondary TTS patients. Moreover, the invastigators hypothesize that distinct signatures of circulating biomarkers may be associated with these two categories of TTS patients. Therefore, identifying these specific signatures may help in the diagnosis of these patients and pave the way for the identification of specific pathophysiologic pathways and the development of future therapies.
This multi-center project aims to quantify the socio-medical costs associated with Unilateral Spatial Neglect (USN) resulting from acquired brain injury (stroke) and to measure the effects of USN rehabilitation on functional autonomy, quality of life and psychological well-being of patients affected by this syndrome, considering the repercussions on a psychological level and on the quality of life of caregivers. To this end, the experimenters will administer to right brain-injured patients - with (Experimental Group) or without (Control Group) USN - who undertook a rehabilitation process, a series of questionnaires: Activities of daily living (ADL), Barthel Index; Instrumental activities of daily living scale (I-ADL:), the Health Related Quality of Life questionnaire (EQ-5D-5L), the Geriatric Depression Scale (GDS), and the State-Trait Anxiety Inventory (STAI-Y). The aforementioned tests will be administered before the start of the rehabilitation (baseline) and after one month, 3, 6 and 12 months after the end of the rehabilitation. The impact of USN and its treatment on the psycho-physical well-being of the caregiver will be measured through the Caregiver Burden Inventory questionnaire, which will be administered with the same timing (baseline, 1-3-6-12 months after rehabilitation). The costs of USN will be surveyed through an ad-hoc questionnaire, which includes a version intended for patients and one for caregivers, in order to identify the resources consumed due to the disease and the expenses taken during the observation period, to be estimated subsequently in monetary terms (€).
Severe asthma is now widely accepted to be a heterogeneous syndrome consisting of multiple phenotypes identified by specific biomarkers and targeted by tailored biological therapies. However, much remains unclear regarding the best approaches to manage these patients, or concerning the pathophysiological mechanisms underlying the disease. Small airway (SA) are defined as those airways with an internal diameter <2 mm. In patients affected by asthma, it has been reported that SA are the predominant site of airflow resistance. Peripheral airways are thickened in asthma due to chronic inflammation in the epithelium, submucosa and muscle area. It has been suggested that the outer wall is more inflamed than the inner wall, with a higher number of lymphocytes, eosinophils, and neutrophils associated to an increased expression of interleukin-4 (IL-4), interleukin-5 (IL-5) and eotaxin. Moreover, it is well documented that SA inflammation and dysfunction contribute significantly to the clinical impact of asthma and that 50-60% of asthmatics have a SA involvement across all disease severities. An important question is whether SA disease in asthma is variable among distinct asthma phenotypes and whether it occurs in all patients. Cluster analyses have been recently used to identify specific asthma phenotypes, but markers of SA function have not been investigated. However, evidence is accumulating to support that SA dysfunction and inflammation may contribute to distinct asthma phenotypes. Recent findings indicate that SA are significantly affected in severe asthma and that their involvement is associated with worse disease outcomes. It has been reported that patients with asthma and a history of frequent exacerbations per year had a significant SA involvement. Furthermore, peripheral airways significantly contribute not only to the level of asthma control, but also to patients' quality of life and perception of symptoms. At last more thickened SA and higher numbers of eosinophils are detectable in subjects with fatal asthma. The assessment of SA represents a big challenge and requires qualified expertise and sophisticated techniques including body plethysmography, single and multiple breath nitrogen washout, impulse oscillometry (IOS), fraction exhaled NO at multiflow, sputum induction and high-resolution chest CT (HRCT). Such procedures can either provide functional information on the degree/extent of ventilation heterogeneity and air trapping or facilitate the understanding of the inflammatory and remodeling processes. In addition, a number of clinical trials have in recent years demonstrated the efficacy of biologics in severe asthma. Omalizumab, a humanized anti-Imunoglobulin E monoclonal antibody (mAb) has been well recognized as an important option for treating allergic asthma as an add- on therapy for uncontrolled disease. Three anti-IL-5 therapies are currently available for the treatment of severe asthma, including Mepolizumab, Reslizumab, and Benralizumab. The newest biologic agent to be approved is Dupilumab that is a human mAb that targets the subunit of the IL-4 receptor. Biologics represent an innovative strategy for the treatment of severe asthma. In most patients with SAD these drugs control inflammation, improve lung function, ameliorate clinical symptoms, reduce exacerbations and have a marked steroid-sparing effect. However, there is still a significant proportion of non-responders and a lack of validated predictive biomarkers in such subpopulation. In regard to this, very limited findings are available about the effect of biologics therapy on SA.
This project aims to investigate whether an integrated model based on proactive and reactive telenursing monitoring coordinated by a parkinsonism nurse specialist (case manager) is able to improve care delivery and quality of life of patients with atypical parkinsonisms. This could reduce the risk (e.g. through health education counselling) and the severity of complications (e.g. falls). Main responsibilities of the Co-PI: project idea and supervision, coordination of the study, patient selection and recruitment, patient recruitment, participation in statistical analysis and drafting the manuscript. Co-PI is responsible of the rate of recruitment and drop-out