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.
This project aims to identify, through RNA-Seq technology, the genetic alterations underlying undiagnosed rare diseases in pediatric and adult patients with early onset and with negative WES. - Objective 1: Set up and validate techniques. Set-up and validation of the transcriptome analysis protocol in healthy subjects and in patients with known splicing alterations and/or altered RNA expression. - Objective 2: Diagnostic phase. Study of splicing alterations and RNA levels in cultured fibroblasts obtained from skin biopsies of patients with rare genetic diseases and negative exome. Exploratory goals - Compare the RNA expression profile obtained from skin biopsy-derived fibroblasts with the RNA expression profile from blood. The most relevant results will be validated in qRT-PCR. - To analyze the transcriptional and protein profile heterogeneity in skin-derived fibroblasts in enrolled subjects. To explore the effects of genetic (from WES) and transcriptional (from RNA-seq) alterations in participants' plasma and serum. Healthy controls Five healthy subjects will be recruited from the staff of the Mario Negri Institute for Pharmacological Research. The coded samples will be used to set up the method of isolation and culture of skin fibroblasts and RNA-Seq. Validation group For the set-up and validation of the skin fibroblast isolation and RNA-Seq procedure, ten adult patients with known diagnosis and with alterations in RNA levels and/or splicing will be recruited as positive controls. Patients who meet the requirements described above will be contacted by the doctors of the Daccò Center for an interview explaining the project. Those who agree to participate in the study will be asked to sign the informed consent before proceeding with the experimental part. "Discovery/Exploration" group The exploration cohort will be composed of 30 symptomatic undiagnosed patients with suspected genetic disease (children and adults with infantile onset) belonging to the Clinical Center of the Mario Negri Institute for Pharmacological Research and for whom WES investigations did not reveal causative genetic alterations.
In patients undergoing minimally invasive thoracoscopic surgery (video-assisted thoracoscopic surgery, or VATS), moderate to severe post-operative pain may often be experienced. The presence of pain negatively affects the perceived quality of care and can predispose to complications, as the development of chronic pain. In order to prevent post-operative pain, different multimodal pain treatment protocols are applied, consisting in combinations of local-regional anesthesiological techniques and intravenous medications. Regional anesthesia is considered essential to prevent pain in the immediate post-operative period. However, to date, there is no agreement regarding which is the most effective regional anesthesiological technique; therefore, the choice is usually based on the Anesthetist's preferences. The aim of this study is to compare three regional anesthesiological techniques (cryoanalgesia, epidural anesthesia, and erector spinae muscle plane block) routinely used during thoracoscopic lung surgery.
Trastuzumab deruxtecan (T-DXD) as monotherapy is indicated for the treatment of adult patients with advanced HER2-positive advanced gastric or gastroesophageal junction (GEJ) adenocarcinoma who have received a prior trastuzumab-based regimen. This study will assess the effectiveness of T-DXd, patient demographic and clinical characteristics, and treatment patterns in patients with advanced HER2-positive advanced gastric or GEJ adenocarcinoma.
Mechanical ventilation may be associated with ventilator-induced lung injury (VILI). Several respiratory variables have been employed to estimate the risk of VILI, such as tidal volumes, plateau pressure, driving pressure, and mechanical power. This dissipation of energy during ventilation can contribute to VILI through two mechanisms, stress relaxation and pendelluft, which can be estimated at the bedside by applying an end-inspiratory pause and evaluating the slow decrease in airway pressure going from the pressure corresponding to zero flow (called pressure P1) and the final pressure at the end of the pause (called plateau pressure P2). The choice of measuring the end-inspiratory airway pressure (PawEND-INSP) at a fixed, although relatively early, timepoint, i.e., after 0.5 second from the beginning of the pause, as prescribed by the indications of the Acute Respiratory Distress Syndrome (ARDS) Network, while assessing the risk of VILI associated with the elastic pressure of the respiratory system, may not reflect the harmful potential associated with the viscoelastic properties of the respiratory system. It is still unclear whether an PawEND-INSP measured at the exact moment of zero flow (P1) is more reliable in the calculation of those variables, such as ΔP and MP, associated with the outcomes of patients with and without ARDS, as compared to the pressure measured at the end of the end-inspiratory pause (plateau pressure P2). This multicenter prospective observational study aims to evaluate whether the use of P1, as compared to P2, affects the calculation of ΔP and MP. The secondary objectives are: 1) verify whether in patients with a lung parenchyma characterized by greater parenchymal heterogeneity, as assessed by EIT, P1-P2 decay is greater than in patients with greater parenchymal homogeneity; 2) evaluate whether patients with both ΔP values calculated using P1 and P2 <15 cmH2O (or both MP values calculated using P1 and P2 <17 J/min) develop shorter duration of invasive mechanical ventilation, shorter ICU and hospital length of stay and lower ICU and hospital mortality, as compared to patients with only ΔP calculated with P1 ≥ 15 cmH2O (or only MP calculated with P1 ≥ 17 J/min) and patients with both ΔP values calculated using P1 and P2 ≥ 15 cmH2O (or both MP values calculated using P1 and P2 ≥ 17 J/min).
the introduction of new MV modalities has shown promising results in reducing the incidence of weaning failure, mainly due to a more physiologic approach which allows respiratory muscle preservation. Among them, the Neurally Adjust Ventilatory Assist (NAVA) seemed to be associated with lower incidence of weaning failure and subsequent duration of mechanical ventilation, compared to standard modalities like the Pressure Support Ventilation (PSV) . Moreover, NAVA allows the evaluation of the diaphragm electrical activity (EAdi), an index of diaphragmatic neural respiratory drive. However, no study has compared TFic values during PSV and NAVA modalities in patients with difficult weaning from MV admitted in ICU.
The study aims to evaluate which is the best approach for the non-pharmacological treatment of patients with different types of primary headaches (tension-type headache (TTC), trigeminal autonomic headache (TACs) and migraine) or cervicogenic headache by comparing three methods of intervention to control treatment (drug therapy): therapeutic exercise (TE), myofascial release + TE, and Mulligan's manual therapy + TE. The efficacy will be evaluated in terms of reduction of headache episodes, pain intensity and its duration.
The aim of the study is to evaluate the efficacy of a new iron supplement with orodispersible formulation vs an iron supplement in capsules in subjects with mild anemia.
Real-world experience on the use of Upadacitinib in the treatment of Adult moderate-severe atopic dermatitis
Various studies have shown that the milk of a preterm infant differs from that of a term infant in the composition of micronutrients, vitamins, macronutrients, carbohydrates and proteins. The study of lipidomic is of particular interest because the role of fatty acids is known both as essential constituents of cell membranes and as molecules actively involved in energy metabolism. The study of human milk would offer the advantage of offering the best type of nutrition for the newborn at each specific period of life, in the event of a lack of mother's milk.
Major depressive disorder (MDD) is the most common mental disorder. It can be a huge burden not only for the person affected by it, but also for his/her whole family. The goal of this clinical trial is to test the efficacy of a family supportive intervention called psychoeducational family intervention (PFI) compared to a brief informative intervention in families with a member affected by MDD. Families will participate in one of the two interventions for a period of 6 months more or less, and they will be asked to answer some questionnaires about how much MDD impacts on their everyday life and the patient's symptoms, in order to understand whether a more structured intervention such as PFI can be useful for families in order to better deal with this complicated illness.