View clinical trials related to Syndrome.
Filter by:Aicardi-Goutières syndrome (AGS) is a disease of children, particularly affecting the brain and the skin. There is a close link between AGS and increased amounts of a chemical called interferon. Normally humans only produce interferon when they are infected with a virus. In AGS, there is no viral infection. Instead, the cells in the cells of affected patients are confused into thinking that their own genetic material is coming from a virus. As a result they produce interferon all the time, which acts as a poison that damages the cells. The Investigators wish to treat AGS patients with drugs called reverse transcriptase inhibitors (RTIs), used to fight the HIV-1 virus that causes AIDS. The investigators will monitor the effect of treatment on interferon levels, and look at other markers which might give us clues to how the drugs are working. The trial is funded by the Medical Research Council, and involves experts based in Edinburgh, Birmingham, Manchester and Great Ormond Street Hospital.
This study is designed to assess whether the investigational drug maralixibat, is safe and well tolerated in children <12 months of age with Alagille Syndrome [ALGS] or Progressive Familial Intrahepatic Cholestasis [PFIC].
Congenital long QT syndrome (LQTS) is a rare genetic disorder characterized by prolongation of the corrected QT interval (QTc) on the electrocardiogram. LQTS is associated with a risk of syncope or sudden death from ventricular arrhythmia. The increase in the duration of the corrected QT interval and / or changes in the morphology of the T wave on the electrocardiogram are markers of an increased risk of sudden death and syncope. Recently, a personal portable 6-lead device (DI, DII, DIII, aVF, aVL and aVR) connected to the patient's smartphone has entered the market (KARDIA MOBILE 6L, AliveCor, Mountain View, CALIFORNIA, USA). The APPLE WATCH Series 6 (Apple, Cupertino, CA, USA) can also record an ECG. If the device is designed to record a single lead (DI), several works have shown that it is possible to record 9 leads (DI, DII, DIII, V1, V2, V3, V4, V5 and V6) by moving simply the device (Spaccarotella CAS et al. JAMA Cardiology 2020). These devices were originally designed to screen for atrial fibrillation, but they produce accurate 6- and 9-lead ECGs and could potentially allow ambulatory ECG monitoring of patients with LQTS.
Selection of developmentally competent oocytes enhances IVF efficiency. Usually, oocyte quality is determined based on its nuclear maturation and the presence of specific cytoplasmic and extracytoplasmic morphologic features. Gonadotropin-releasing hormone agonists (GnRH Agonists) and gonadotropin-releasing hormone antagonists (GnRH Antagonists) are used during controlled ovarian stimulation (COS) protocols in order to prevent premature luteinizing hormone (LH) surge and premature ovulation. However, GnRH receptors are also expressed in extra-pituitary tissues such as ovary, but it is still unknown whether the type of GnRH analogues used during COS could affect the oocyte morphology in polycystic ovary syndrome (PCOS) patients. The aim of this prospective, non-randomised, open-label, clinical trial is to compare the effects of two pituitary suppression regimens; GnRH Agonist-Long Protocol and GnRH Antagonist-Flexible Protocol on oocyte morphology in PCOS patients during IVF/ICSI.
This prospective, non-randomised, open-label, clinical trial is conducting on polycystic ovary syndrome (PCOS) subjects to compare the effects of two pituitary suppression regimens; GnRH Agonist-Long Protocol and GnRH Antagonist-Flexible Protocol on clinical and embryological IVF/ICSI outcomes, and on the follicular fluid levels of Placental Growth Factor (PlGF); which is known for his pivotal role in the regulation of ovulation, embryo development, and implantation
This study aims to use clinical and biological characteristics of acute leukemias to screen for patient eligibility for available pediatric leukemia sub-trials. Testing bone marrow and blood from patients with leukemia that has come back after treatment or is difficult to treat may provide information about the patient's leukemia that is important when deciding how to best treat it, and may help doctors find better ways to diagnose and treat leukemia in children, adolescents, and young adults.
This is a Phase II, single arm, open-label study to determine if treatment with eculizumab prolongs pregnancy compared to historical controls in women with preeclampsia between 23-30 weeks gestation.
Acute Respiratory Distress Syndrome (ARDS) is the main clinical presentation of SARS-CoV-2 (Covid-19) infected patients admitted in Intensive Care Unit (ICU). During the first phase of the outbreak (between February and May 2020), the use of invasive Mechanical Ventilation (MV) was largely required with 63% of ICU patients intubated in the first 24 hours after admission and up to 80% of patients during the overall ICU stay. Mortality was especially higher when using MV in the first 24 hours. In contrast, the use of non-invasive oxygenation strategies in the first 24 hours was only 19% for High Flow Nasal Cannula oxygen therapy (HFNC) and 6% for Non-Invasive Ventilation (NIV). Several non-invasive oxygenation strategies were proposed in order to delay or avoid MV in ICU patients suffering from Covid-19 ARDS. The use of HFNC became the recommended oxygenation strategy, based in particular on publications prior to the outbreak. The use of NIV or Continuous Positive Airway Pressure (CPAP) combined with HFNC have also been proposed. Although these non-invasive oxygenation strategies seem widely used in the second phase of the outbreak, they have not yet confirmed their clinical impact on MV requirement and patient's outcome. Moreover, no comparison has been made between these different non-invasive oxygenation strategies. The aim of this study is to compare different non-invasive oxygenation strategies (HFNC, NIV, CPAP) on MV requirement and outcome in ICU patients treated for ARDS related to Covid-19.
This is an open-label, sequential-dose escalation/de-escalation trial testing 3 dose levels of MT1002 in patients undergoing PCI due to ACS with NSTEMI. Three doses of MT1002 will be sequentially tested in cohorts of 6 patients each to achieve target ACT.
The purpose of the study is investigate the effectiveness of Zemedy, a mobile application that enables the digital delivery of a CBT program to people with IBS.